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Volumn 83, Issue 10, 2008, Pages 789-794

Ankyrin-linked hereditary spherocytosis in an African-American kindred

Author keywords

[No Author keywords available]

Indexed keywords

ANKYRIN; ANKYRIN 1; COMPLEMENTARY DNA; GENOMIC DNA; ISOPROTEIN; METHIONINE; UNCLASSIFIED DRUG;

EID: 53549099397     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.21254     Document Type: Article
Times cited : (13)

References (63)
  • 1
    • 1942509531 scopus 로고    scopus 로고
    • Hereditary spherocytosis - Defects in proteins that connect the membrane skeleton to the lipid bilayer
    • Eber S, Lux SE. Hereditary spherocytosis - Defects in proteins that connect the membrane skeleton to the lipid bilayer. Semin Hematol 2004;41:118-141.
    • (2004) Semin Hematol , vol.41 , pp. 118-141
    • Eber, S.1    Lux, S.E.2
  • 2
    • 38049048081 scopus 로고    scopus 로고
    • Organizing the fluid membrane bilayer: Diseases linked to spectrin and ankyrin
    • Bennett V, Healy J. Organizing the fluid membrane bilayer: Diseases linked to spectrin and ankyrin. Trends Mol Med 2008;14:28-36.
    • (2008) Trends Mol Med , vol.14 , pp. 28-36
    • Bennett, V.1    Healy, J.2
  • 3
    • 0031453927 scopus 로고    scopus 로고
    • Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis
    • Lanciotti M, Perutelli P, Valetto A, et al. Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis. Haematologica 1997;82:460-462.
    • (1997) Haematologica , vol.82 , pp. 460-462
    • Lanciotti, M.1    Perutelli, P.2    Valetto, A.3
  • 4
    • 0034198572 scopus 로고    scopus 로고
    • Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis
    • Lee YK, Cho HI, Park SS, et al. Abnormalities of erythrocyte membrane proteins in Korean patients with hereditary spherocytosis. J Korean Med Sci 2000;15:284-288.
    • (2000) J Korean Med Sci , vol.15 , pp. 284-288
    • Lee, Y.K.1    Cho, H.I.2    Park, S.S.3
  • 5
    • 0028064834 scopus 로고
    • Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis
    • Miraglia del Giudice E, Iolascon A, Pinto L, et al. Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis. Br J Haematol 1994;88:52-55.
    • (1994) Br J Haematol , vol.88 , pp. 52-55
    • Miraglia del Giudice, E.1    Iolascon, A.2    Pinto, L.3
  • 6
    • 0027321231 scopus 로고
    • Combined ankyrin and spectrin deficiency in hereditary spherocytosis
    • Pekrun A, Eber SW, Kuhlmey A, et al. Combined ankyrin and spectrin deficiency in hereditary spherocytosis. Ann Hematol 1993;67:89-93.
    • (1993) Ann Hematol , vol.67 , pp. 89-93
    • Pekrun, A.1    Eber, S.W.2    Kuhlmey, A.3
  • 7
    • 0033377235 scopus 로고    scopus 로고
    • Erythropoiesis: Hereditary spherocytosis in Greece - Collective data on a large number of patients
    • Premetis E, Stamoulakatou A, Loukopoulos D. Erythropoiesis: Hereditary spherocytosis in Greece - Collective data on a large number of patients. Hematology 1999;4:361-366.
    • (1999) Hematology , vol.4 , pp. 361-366
    • Premetis, E.1    Stamoulakatou, A.2    Loukopoulos, D.3
  • 8
    • 0033782358 scopus 로고    scopus 로고
    • Erythroid membrane protein defects in hereditary spherocytosis. A study of 62 Spanish cases
    • Ricard MP, Gilsanz F, Millan I. Erythroid membrane protein defects in hereditary spherocytosis. A study of 62 Spanish cases. Haematologica 2000;85:994-995.
    • (2000) Haematologica , vol.85 , pp. 994-995
    • Ricard, M.P.1    Gilsanz, F.2    Millan, I.3
  • 9
    • 0028091593 scopus 로고
    • Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil
    • Saad ST, Costa FF, Vicentim DL, et al. Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. Br J Haematol 1994;88:295-299.
    • (1994) Br J Haematol , vol.88 , pp. 295-299
    • Saad, S.T.1    Costa, F.F.2    Vicentim, D.L.3
  • 10
    • 0027490813 scopus 로고
    • Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis
    • Savvides P, Shalev O, John KM, et al. Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosis. Blood 1993;82:2953-2960.
    • (1993) Blood , vol.82 , pp. 2953-2960
    • Savvides, P.1    Shalev, O.2    John, K.M.3
  • 11
    • 9144274341 scopus 로고    scopus 로고
    • Hereditary spherocytosis: Identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland
    • Boguslawska DM, Heger E, Chorzalska A, et al. Hereditary spherocytosis: Identification of several HS families with ankyrin and band 3 deficiency in a population of southwestern Poland. Ann Hematol 2004;83:28-33.
    • (2004) Ann Hematol , vol.83 , pp. 28-33
    • Boguslawska, D.M.1    Heger, E.2    Chorzalska, A.3
  • 12
    • 20244368825 scopus 로고    scopus 로고
    • Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis
    • Rocha S, Rebelo I, Costa E, et al. Protein deficiency balance as a predictor of clinical outcome in hereditary spherocytosis. Eur J Haematol 2005;74:374-380.
    • (2005) Eur J Haematol , vol.74 , pp. 374-380
    • Rocha, S.1    Rebelo, I.2    Costa, E.3
  • 13
    • 0242551602 scopus 로고    scopus 로고
    • Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis
    • Sanchez-Lopez JY, Camacho AL, Magana MT, et al. Red cell membrane protein deficiencies in Mexican patients with hereditary spherocytosis. Blood Cells Mol Dis 2003;31:357-359.
    • (2003) Blood Cells Mol Dis , vol.31 , pp. 357-359
    • Sanchez-Lopez, J.Y.1    Camacho, A.L.2    Magana, M.T.3
  • 14
    • 0018710716 scopus 로고
    • Immunoreactive forms of human erythrocyte ankyrin are present in diverse cells and tissues
    • Bennett V. Immunoreactive forms of human erythrocyte ankyrin are present in diverse cells and tissues. Nature 1979;281:597-599.
    • (1979) Nature , vol.281 , pp. 597-599
    • Bennett, V.1
  • 15
    • 0018352891 scopus 로고
    • Identification by peptide analysis of the spectrin-binding protein in human erythrocytes
    • Luna EJ, Kidd GH, Branton D. Identification by peptide analysis of the spectrin-binding protein in human erythrocytes. J Biol Chem 1979;254:2526-2532.
    • (1979) J Biol Chem , vol.254 , pp. 2526-2532
    • Luna, E.J.1    Kidd, G.H.2    Branton, D.3
  • 16
    • 0027269743 scopus 로고
    • Ankyrins: Structure and function in normal cells and hereditary spherocytes
    • Peters LL, Lux SE. Ankyrins: Structure and function in normal cells and hereditary spherocytes. Semin Hematol 1993;30:85-118.
    • (1993) Semin Hematol , vol.30 , pp. 85-118
    • Peters, L.L.1    Lux, S.E.2
  • 17
    • 0032524295 scopus 로고    scopus 로고
    • An alternative first exon in the distal end of the erythroid ankyrin gene leads to production of a small isoform containing an NH2-terminal membrane anchor
    • Birkenmeier CS, Sharp JJ, Gifford EJ, et al. An alternative first exon in the distal end of the erythroid ankyrin gene leads to production of a small isoform containing an NH2-terminal membrane anchor. Genomics 1998;50:79-88.
    • (1998) Genomics , vol.50 , pp. 79-88
    • Birkenmeier, C.S.1    Sharp, J.J.2    Gifford, E.J.3
  • 18
    • 0027155208 scopus 로고
    • Complex patterns of sequence variation and multiple 5′ and 3′ ends are found among transcripts of the erythroid ankyrin gene
    • Birkenmeier CS, White RA, Peters LL, et al. Complex patterns of sequence variation and multiple 5′ and 3′ ends are found among transcripts of the erythroid ankyrin gene. J Biol Chem 1993;268:9533-9540.
    • (1993) J Biol Chem , vol.268 , pp. 9533-9540
    • Birkenmeier, C.S.1    White, R.A.2    Peters, L.L.3
  • 19
    • 0031941608 scopus 로고    scopus 로고
    • Distribution of epithelial ankyrin (Ank3) spliceoforms in renal proximal and distal tubules
    • Doctor RB, Chen J, Peters LL, et al. Distribution of epithelial ankyrin (Ank3) spliceoforms in renal proximal and distal tubules. Am J Physiol 1998;74; F129-F138.
    • (1998) Am J Physiol , vol.74
    • Doctor, R.B.1    Chen, J.2    Peters, L.L.3
  • 20
    • 0031915372 scopus 로고    scopus 로고
    • An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene
    • Gallagher PG, Forget BG. An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene. J Biol Chem 1998;273:1339-1348.
    • (1998) J Biol Chem , vol.273 , pp. 1339-1348
    • Gallagher, P.G.1    Forget, B.G.2
  • 21
    • 0026077783 scopus 로고
    • Distinct ankyrin isoforms at neuron cell bodies and nodes of Ranvier resolved using erythrocyte ankyrin-deficient mice
    • Kordeli E, Bennett V. Distinct ankyrin isoforms at neuron cell bodies and nodes of Ranvier resolved using erythrocyte ankyrin-deficient mice. J Cell Biol 1991;114:1243-1258.
    • (1991) J Cell Biol , vol.114 , pp. 1243-1258
    • Kordeli, E.1    Bennett, V.2
  • 22
    • 0025231649 scopus 로고
    • An isoform of ankyrin is localized at nodes of ranvier in myelinated axons of central and peripheral nerves
    • Kordeli E, Davis J, Trapp B, et al. An isoform of ankyrin is localized at nodes of ranvier in myelinated axons of central and peripheral nerves. J Cell Biol 1990;110:1341-1352.
    • (1990) J Cell Biol , vol.110 , pp. 1341-1352
    • Kordeli, E.1    Davis, J.2    Trapp, B.3
  • 23
    • 0028985712 scopus 로고
    • A new ankyrin gene with neural-specific isoforms localized at the axonal initial segment and node of ranvier
    • Kordeli E, Lambert S, Bennett V. AnkyrinG. A new ankyrin gene with neural-specific isoforms localized at the axonal initial segment and node of ranvier. J Biol Chem 1995;270:2352-2359.
    • (1995) J Biol Chem , vol.270 , pp. 2352-2359
    • Kordeli, E.1    Lambert, S.2    Bennett, V.3    AnkyrinG4
  • 24
    • 0025214652 scopus 로고
    • cDNA sequence for human erythrocyte ankyrin
    • Lambert S, Yu H, Prchal JT, et al. cDNA sequence for human erythrocyte ankyrin. Proc Natl Acad Sci USA 1990;87:1730-1734.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 1730-1734
    • Lambert, S.1    Yu, H.2    Prchal, J.T.3
  • 25
    • 0025117790 scopus 로고
    • Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins
    • Lux SE, John KM, Bennett V. Analysis of cDNA for human erythrocyte ankyrin indicates a repeated structure with homology to tissue-differentiation and cell-cycle control proteins. Nature 1990;344:36-42.
    • (1990) Nature , vol.344 , pp. 36-42
    • Lux, S.E.1    John, K.M.2    Bennett, V.3
  • 26
    • 0025874185 scopus 로고
    • Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes
    • Otto E, Kunimoto M, McLaughlin T, Bennett V. Isolation and characterization of cDNAs encoding human brain ankyrins reveal a family of alternatively spliced genes. J Cell Biol 1991;114:241-253.
    • (1991) J Cell Biol , vol.114 , pp. 241-253
    • Otto, E.1    Kunimoto, M.2    McLaughlin, T.3    Bennett, V.4
  • 27
    • 0035119003 scopus 로고    scopus 로고
    • Skin-specific expression of ank-3(93), a novel ankyrin-3 splice variant
    • Peters B, Kaiser HW, Magin TM. Skin-specific expression of ank-3(93), a novel ankyrin-3 splice variant. J Invest Dermatol 2001;16:216-223.
    • (2001) J Invest Dermatol , vol.16 , pp. 216-223
    • Peters, B.1    Kaiser, H.W.2    Magin, T.M.3
  • 28
    • 0029047129 scopus 로고
    • Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain
    • Peters LL, John KM, Lu FM, et al. Ank3 (epithelial ankyrin), a widely distributed new member of the ankyrin gene family and the major ankyrin in kidney, is expressed in alternatively spliced forms, including forms that lack the repeat domain. J Cell Biol 1995;130:313-330.
    • (1995) J Cell Biol , vol.130 , pp. 313-330
    • Peters, L.L.1    John, K.M.2    Lu, F.M.3
  • 29
    • 0032508499 scopus 로고    scopus 로고
    • Identification of a novel ankyrin isoform (AnkG190) in kidney and lung that associates with the plasma membrane and binds alpha-Na, K-ATPase
    • Thevananther S, Kolli AH, Devarajan P. Identification of a novel ankyrin isoform (AnkG190) in kidney and lung that associates with the plasma membrane and binds alpha-Na, K-ATPase. J Biol Chem 1998;273:23952-23958.
    • (1998) J Biol Chem , vol.273 , pp. 23952-23958
    • Thevananther, S.1    Kolli, A.H.2    Devarajan, P.3
  • 30
    • 9044220232 scopus 로고    scopus 로고
    • Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis
    • Eber SW, Gonzalez JM, Lux ML, et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet 1996;13:214-218.
    • (1996) Nat Genet , vol.13 , pp. 214-218
    • Eber, S.W.1    Gonzalez, J.M.2    Lux, M.L.3
  • 31
    • 27744595523 scopus 로고    scopus 로고
    • Hematologically important mutations: Ankyrin variants in hereditary spherocytosis
    • Gallagher PG. Hematologically important mutations: Ankyrin variants in hereditary spherocytosis. Blood Cells Mol Dis 2005;35:345-347.
    • (2005) Blood Cells Mol Dis , vol.35 , pp. 345-347
    • Gallagher, P.G.1
  • 32
    • 0030739103 scopus 로고    scopus 로고
    • Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing
    • Gallagher PG, Tse WT, Scarpa AL, et al. Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing. J Biol Chem 1997;272:19920-19928.
    • (1997) J Biol Chem , vol.272 , pp. 19920-19928
    • Gallagher, P.G.1    Tse, W.T.2    Scarpa, A.L.3
  • 33
    • 0042662884 scopus 로고    scopus 로고
    • Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis
    • Ozcan R, Jarolim P, Lux SE, et al. Simultaneous (AC)n microsatellite polymorphism analysis and single-stranded conformation polymorphism screening is an efficient strategy for detecting ankyrin-1 mutations in dominant hereditary spherocytosis. Br J Haematol 2003;122:669-677.
    • (2003) Br J Haematol , vol.122 , pp. 669-677
    • Ozcan, R.1    Jarolim, P.2    Lux, S.E.3
  • 34
    • 34250013141 scopus 로고    scopus 로고
    • A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis
    • Edelman EJ, Maksimova Y, Duru F, et al. A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis. Blood 2007;109:5491-5493.
    • (2007) Blood , vol.109 , pp. 5491-5493
    • Edelman, E.J.1    Maksimova, Y.2    Duru, F.3
  • 35
    • 0034136236 scopus 로고    scopus 로고
    • Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population
    • Yawata Y, Kanzaki A, Yawata S, et al. Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. Int J Hematol 2000;71:118-135.
    • (2000) Int J Hematol , vol.71 , pp. 118-135
    • Yawata, Y.1    Kanzaki, A.2    Yawata, S.3
  • 36
    • 0034540856 scopus 로고    scopus 로고
    • Low frequency of ankyrin mutations in hereditary spherocytosis: Identification of three novel mutations
    • Leite RC, Besseres DS, Ferreira JS, et al. Low frequency of ankyrin mutations in hereditary spherocytosis: Identification of three novel mutations. Hum Mutat 2000;16:529-534.
    • (2000) Hum Mutat , vol.16 , pp. 529-534
    • Leite, R.C.1    Besseres, D.S.2    Ferreira, J.S.3
  • 37
    • 0025783869 scopus 로고
    • Occurrence and characteristics of hereditary spherocytosis in Algeria
    • Zerhouni F, Guetarni D, Henni T, et al. Occurrence and characteristics of hereditary spherocytosis in Algeria. Eur J Haematol 1991;47:42-47.
    • (1991) Eur J Haematol , vol.47 , pp. 42-47
    • Zerhouni, F.1    Guetarni, D.2    Henni, T.3
  • 38
    • 0037208994 scopus 로고    scopus 로고
    • Interaction of sickle cell trait with hereditary spherocytosis: Splenic infarcts and sequestration
    • Ustun C, Kutlar F, Holley L, et al. Interaction of sickle cell trait with hereditary spherocytosis: Splenic infarcts and sequestration. Acta Haematol 2003;109:46-49.
    • (2003) Acta Haematol , vol.109 , pp. 46-49
    • Ustun, C.1    Kutlar, F.2    Holley, L.3
  • 39
    • 0024559617 scopus 로고
    • Translation initiation at non-AUG triplets in mammalian cells
    • Peabody DS. Translation initiation at non-AUG triplets in mammalian cells. J Biol Chem 1989;264:5031-5035.
    • (1989) J Biol Chem , vol.264 , pp. 5031-5035
    • Peabody, D.S.1
  • 40
    • 0031842442 scopus 로고    scopus 로고
    • Initiation of protein synthesis in mammalian cells with codons other than AUG and amino acids other than methionine
    • Drabkin HJ, RajBhandary UL. Initiation of protein synthesis in mammalian cells with codons other than AUG and amino acids other than methionine. Mol Cell Biol 1998;18:5140-5147.
    • (1998) Mol Cell Biol , vol.18 , pp. 5140-5147
    • Drabkin, H.J.1    RajBhandary, U.L.2
  • 41
    • 34249848155 scopus 로고    scopus 로고
    • Transactivation of a DR-1 PPRE by a human constitutive androstane receptor variant expressed from internal protein translation start sites
    • Stoner MA, Auerbach SS, Zamule SM, et al. Transactivation of a DR-1 PPRE by a human constitutive androstane receptor variant expressed from internal protein translation start sites. Nucleic Acids Res 2007;35:2177-2190.
    • (2007) Nucleic Acids Res , vol.35 , pp. 2177-2190
    • Stoner, M.A.1    Auerbach, S.S.2    Zamule, S.M.3
  • 42
    • 34948845022 scopus 로고    scopus 로고
    • Some thoughts about translational regulation: Forward and backward glances
    • Kozak M. Some thoughts about translational regulation: Forward and backward glances. J Cell Biochem 2007;102:280-290.
    • (2007) J Cell Biochem , vol.102 , pp. 280-290
    • Kozak, M.1
  • 43
    • 36748999400 scopus 로고    scopus 로고
    • New modes of translational control in development, behavior, and disease
    • Sonenberg N, Hinnebusch AG. New modes of translational control in development, behavior, and disease. Mol Cell 2007;28:721-729.
    • (2007) Mol Cell , vol.28 , pp. 721-729
    • Sonenberg, N.1    Hinnebusch, A.G.2
  • 44
    • 0023836055 scopus 로고
    • An initiator codon mutation in ornithine-delta aminotransferase causing gyrate atrophy of the choroid and retina
    • Mitchell G, Brody LC, Looney J, et al. An initiator codon mutation in ornithine-delta aminotransferase causing gyrate atrophy of the choroid and retina. J Clin Invest 1988;81:630-633.
    • (1988) J Clin Invest , vol.81 , pp. 630-633
    • Mitchell, G.1    Brody, L.C.2    Looney, J.3
  • 45
    • 0025323257 scopus 로고
    • Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy
    • Patten JL, Johns DR, Valle D, et al. Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy. N Engl J Med 1990;322:1412-1419.
    • (1990) N Engl J Med , vol.322 , pp. 1412-1419
    • Patten, J.L.1    Johns, D.R.2    Valle, D.3
  • 46
    • 0036785239 scopus 로고    scopus 로고
    • Initiation codon mutation in an Asian Indian family
    • Gupta A, Hattori Y, Agarwal S. Initiation codon mutation in an Asian Indian family. Am J Hematol 2002;71:134-136.
    • (2002) Am J Hematol , vol.71 , pp. 134-136
    • Gupta, A.1    Hattori, Y.2    Agarwal, S.3
  • 47
    • 0035993339 scopus 로고    scopus 로고
    • Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome
    • Quinteiro C, Castro-Feijoo L, Loidi L, et al. Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome. J Pediatr Endocrinol Metab 2002;15:1041-1045.
    • (2002) J Pediatr Endocrinol Metab , vol.15 , pp. 1041-1045
    • Quinteiro, C.1    Castro-Feijoo, L.2    Loidi, L.3
  • 48
    • 0027462463 scopus 로고
    • Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation
    • Zoppi S, Wilson CM, Harbison MD, et al. Complete testicular feminization caused by an amino-terminal truncation of the androgen receptor with downstream initiation. J Clin Invest 1993;9:1105-1112.
    • (1993) J Clin Invest , vol.9 , pp. 1105-1112
    • Zoppi, S.1    Wilson, C.M.2    Harbison, M.D.3
  • 49
    • 0035846618 scopus 로고    scopus 로고
    • ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN
    • O'Neill GN, Aoki M, Brown RH Jr, et al. ABCD1 translation-initiator mutation demonstrates genotype-phenotype correlation for AMN. Neurology 2001;57:1956-1962.
    • (2001) Neurology , vol.57 , pp. 1956-1962
    • O'Neill, G.N.1    Aoki, M.2    Brown Jr, R.H.3
  • 50
    • 0035107369 scopus 로고    scopus 로고
    • Nuclear forms of parathyroid hormone-related peptide are translated from non-AUG start sites downstream from the initiator methionine
    • Nguyen M, He B, Karaplis A. Nuclear forms of parathyroid hormone-related peptide are translated from non-AUG start sites downstream from the initiator methionine. Endocrinology 2001;142:694-703.
    • (2001) Endocrinology , vol.142 , pp. 694-703
    • Nguyen, M.1    He, B.2    Karaplis, A.3
  • 51
    • 0037344681 scopus 로고    scopus 로고
    • In-depth mutation and SNP discovery using DHPLC gene scanning
    • Lilleberg SL. In-depth mutation and SNP discovery using DHPLC gene scanning. Curr Opin Drug Discov Devel 2003;6:237-252.
    • (2003) Curr Opin Drug Discov Devel , vol.6 , pp. 237-252
    • Lilleberg, S.L.1
  • 52
    • 43849102865 scopus 로고    scopus 로고
    • Yu B, Sawyer NA, Chiu C, et al. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Curr Protoc Hum Genet 2006;Chapter 7:Unit 7.10.
    • Yu B, Sawyer NA, Chiu C, et al. DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC). Curr Protoc Hum Genet 2006;Chapter 7:Unit 7.10.
  • 53
    • 2942523954 scopus 로고    scopus 로고
    • Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
    • Bennett RR, den Dunnen J, O'Brien KF, et al. Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet 2001;2:17.
    • (2001) BMC Genet , vol.2 , pp. 17
    • Bennett, R.R.1    den Dunnen, J.2    O'Brien, K.F.3
  • 54
    • 13744265676 scopus 로고    scopus 로고
    • Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy
    • Biggin A, Holman K, Brett M, et al. Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. Hum Mutat 2004;23:99.
    • (2004) Hum Mutat , vol.23 , pp. 99
    • Biggin, A.1    Holman, K.2    Brett, M.3
  • 55
    • 34547170039 scopus 로고    scopus 로고
    • Multigene amplification and massively parallel sequencing for cancer mutation discovery
    • Dahl F, Stenberg J, Fredriksson S, et al. Multigene amplification and massively parallel sequencing for cancer mutation discovery. Proc Natl Acad Sci USA 2007;104:9387-9392.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 9387-9392
    • Dahl, F.1    Stenberg, J.2    Fredriksson, S.3
  • 56
    • 0035941029 scopus 로고    scopus 로고
    • Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21
    • Patil N, Berno AJ, Hinds DA, et al. Blocks of limited haplotype diversity revealed by high-resolution scanning of human chromosome 21. Science 2001;294:1719-1723.
    • (2001) Science , vol.294 , pp. 1719-1723
    • Patil, N.1    Berno, A.J.2    Hinds, D.A.3
  • 57
    • 10244219858 scopus 로고    scopus 로고
    • Accessing genetic information with high-density DNA arrays
    • Chee M, Yang R, Hubbell E, et al. Accessing genetic information with high-density DNA arrays. Science 1996;274:610-614.
    • (1996) Science , vol.274 , pp. 610-614
    • Chee, M.1    Yang, R.2    Hubbell, E.3
  • 58
    • 24044455869 scopus 로고    scopus 로고
    • Genome sequencing in microfabricated high-density picolitre reactors
    • Margulies M, Egholm M, Altman WE, et al. Genome sequencing in microfabricated high-density picolitre reactors. Nature 2005;437:376-380.
    • (2005) Nature , vol.437 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3
  • 59
    • 35748953750 scopus 로고    scopus 로고
    • Multiplex amplification of large sets of human exons
    • Porreca GJ, Zhang K, Li JB. Multiplex amplification of large sets of human exons. Nat Methods 2007;4:931-936.
    • (2007) Nat Methods , vol.4 , pp. 931-936
    • Porreca, G.J.1    Zhang, K.2    Li, J.B.3
  • 60
    • 0015236352 scopus 로고
    • Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane
    • Fairbanks G, Steck TL, Wallach DF. Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochem 1971;10:2606-2617.
    • (1971) Biochem , vol.10 , pp. 2606-2617
    • Fairbanks, G.1    Steck, T.L.2    Wallach, D.F.3
  • 61
    • 0022652724 scopus 로고
    • Abnormal spectrin in hereditary elliptocytosis
    • Marchesi SL, Nowles WJ, Morrow JS, et al. Abnormal spectrin in hereditary elliptocytosis. Blood 1986;67:141-151.
    • (1986) Blood , vol.67 , pp. 141-151
    • Marchesi, S.L.1    Nowles, W.J.2    Morrow, J.S.3
  • 62
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970;227:680-685.
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, U.K.1
  • 63
    • 0029896244 scopus 로고    scopus 로고
    • Diagnosis of multiple endocrine neoplasia (MEN) 2A, 2B and familial medullary thyroid cancer (FMTC) by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations
    • Kambouris M, Jackson CE, Feldman GL. Diagnosis of multiple endocrine neoplasia (MEN) 2A, 2B and familial medullary thyroid cancer (FMTC) by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations. Hum Mutat 1996;8:64-70.
    • (1996) Hum Mutat , vol.8 , pp. 64-70
    • Kambouris, M.1    Jackson, C.E.2    Feldman, G.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.