메뉴 건너뛰기




Volumn 8, Issue 12, 2013, Pages

Two-exon skipping within MLPH is associated with coat color dilution in rabbits

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA;

EID: 84893194245     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0084525     Document Type: Article
Times cited : (23)

References (52)
  • 1
    • 34347171169 scopus 로고
    • Über Vererbung von Farbe und Zeichnung bei dem Kaninchen
    • Pap E (1921) Über Vererbung von Farbe und Zeichnung bei dem Kaninchen. Z Indukt Abstamm Vererbungsl 26: 185-270.
    • (1921) Z Indukt Abstamm Vererbungsl , vol.26 , pp. 185-270
    • Pap, E.1
  • 2
    • 0019562443 scopus 로고
    • Morphologic basis of inherited coat-color dilutions of cats
    • PubMed: 7276525
    • Prieur DJ, Collier LL (1981) Morphologic basis of inherited coat-color dilutions of cats. J Hered 72: 178-182. PubMed: 7276525.
    • (1981) J Hered , vol.72 , pp. 178-182
    • Prieur, D.J.1    Collier, L.L.2
  • 3
    • 39549107341 scopus 로고    scopus 로고
    • A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken
    • doi:10.1186/1471-2156-9-7. PubMed: 18197963
    • Vaez M, Follett SA, Bed'hom B, Gourichon D, Tixier-Boichard M et al. (2008) A single point-mutation within the melanophilin gene causes the lavender plumage colour dilution phenotype in the chicken. BMC Genet 9: 7. doi:10.1186/1471-2156-9-7. PubMed: 18197963.
    • (2008) BMC Genet , vol.9 , pp. 7
    • Vaez, M.1    Follett, S.A.2    Bed'Hom, B.3    Gourichon, D.4    Tixier-Boichard, M.5
  • 4
    • 70449435654 scopus 로고    scopus 로고
    • Plumage colour mutations and melanins in the feathers of the Japanese quail: A first comparison
    • doi:10.1111/j.1365-2052.2009.01929.x. PubMed: 19496774
    • Minvielle F, Cecchi T, Passamonti P, Gourichon D, Renieri C (2009) Plumage colour mutations and melanins in the feathers of the Japanese quail: a first comparison. Anim Genet 40: 971-974. doi:10.1111/j.1365-2052.2009.01929.x. PubMed: 19496774.
    • (2009) Anim Genet , vol.40 , pp. 971-974
    • Minvielle, F.1    Cecchi, T.2    Passamonti, P.3    Gourichon, D.4    Renieri, C.5
  • 5
    • 0041640344 scopus 로고
    • A quantitative histological study of the pigment found in the coat color mutants of the house mouse. II. Estimates of the total volume of pigment
    • Russel ES (1948) A quantitative histological study of the pigment found in the coat color mutants of the house mouse. II. Estimates of the total volume of pigment. Genetics 33: 228-236.
    • (1948) Genetics , vol.33 , pp. 228-236
    • Russel, E.S.1
  • 6
    • 0023976561 scopus 로고
    • Changes in melanin granules in the fox due to coat color mutations
    • Bradbury MW, Fabricant JD (1988) Changes in melanin granules in the fox due to coat color mutations. J Hered 79: 133-136.
    • (1988) J Hered , vol.79 , pp. 133-136
    • Bradbury, M.W.1    Fabricant, J.D.2
  • 7
    • 34247140712 scopus 로고    scopus 로고
    • Mapping of the silver gene in mink and its association with the dilution gene in dog
    • DOI 10.1159/000100417
    • Anistoroaei R, Christensen K (2007) Mapping of the silver gene in mink and its association with the dilution gene in dog. Cytogenet Genome Res 116: 316-318. doi:10.1159/000100417. PubMed: 17431331. (Pubitemid 46595002)
    • (2007) Cytogenetic and Genome Research , vol.116 , Issue.4 , pp. 316-318
    • Anistoroaei, R.1    Christensen, K.2
  • 8
    • 26444448038 scopus 로고    scopus 로고
    • Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs
    • doi:10.1186/1471-2156-6-S1-S34. PubMed: 15960853
    • Philipp U, Hamann H, Mecklenburg L, Nishino S, Mignot E et al. (2005) Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs. BMC Genet 6: 34. doi:10.1186/1471-2156-6-S1-S34. PubMed: 15960853.
    • (2005) BMC Genet , vol.6 , pp. 34
    • Philipp, U.1    Hamann, H.2    Mecklenburg, L.3    Nishino, S.4    Mignot, E.5
  • 10
    • 67650179548 scopus 로고    scopus 로고
    • Color dilution alopecia in a blue Doberman pinscher crossbreed
    • PubMed: 19436637
    • Perego R, Proverbio D, Roccabianca P, Spada E (2009) Color dilution alopecia in a blue Doberman pinscher crossbreed. Can Vet J 50: 511-514. PubMed: 19436637.
    • (2009) Can Vet J , vol.50 , pp. 511-514
    • Perego, R.1    Proverbio, D.2    Roccabianca, P.3    Spada, E.4
  • 11
    • 0018086099 scopus 로고
    • A syndrome associating partial albinism and immunodeficiency
    • Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C et al. (1978) A syndrome associating partial albinism and immunodeficiency. Am J Med 65: 691-702. doi:10.1016/0002-9343(78)90858-6. PubMed: 707528. (Pubitemid 9039527)
    • (1978) American Journal of Medicine , vol.65 , Issue.4 , pp. 691-702
    • Griscelli, C.1    Durandy, A.2    Guy-Grand, D.3
  • 12
    • 0000764518 scopus 로고
    • The effects of genotype and cell environment on melanoblast differentiation in the house mouse
    • PubMed: 17247639
    • Markert CL, Silvers WK (1956) The effects of genotype and cell environment on melanoblast differentiation in the house mouse. Genetics 41: 429-450. PubMed: 17247639.
    • (1956) Genetics , vol.41 , pp. 429-450
    • Markert, C.L.1    Silvers, W.K.2
  • 13
    • 33646533935 scopus 로고    scopus 로고
    • Black hair follicular dysplasia in Large Münsterländer dogs: Clinical, histological and ultrastructural features
    • doi:10.1111/j.1365-3164.2006.00517.x. PubMed: 16674733
    • von Bomhard W, Mauldin EA, Schmutz SM, Leeb T, Casal ML (2006) Black hair follicular dysplasia in Large Münsterländer dogs: clinical, histological and ultrastructural features. Vet Dermatol 17: 182-188. doi:10.1111/j.1365-3164.2006.00517.x. PubMed: 16674733.
    • (2006) Vet Dermatol , vol.17 , pp. 182-188
    • Von Bomhard, W.1    Mauldin, E.A.2    Schmutz, S.M.3    Leeb, T.4    Casal, M.L.5
  • 14
    • 0037023745 scopus 로고    scopus 로고
    • Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: Implications of a tripartite protein complex for melanosome transport
    • DOI 10.1074/jbc.C200005200
    • Fukuda M, Kuroda TS, Mikoshiba K (2002) Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: implications of a tripartite protein complex for melanosome transport. J Biol Chem 277: 12432-12436. doi:10.1074/jbc. C200005200. PubMed: 11856727. (Pubitemid 34952817)
    • (2002) Journal of Biological Chemistry , vol.277 , Issue.14 , pp. 12432-12436
    • Fukuda, M.1    Kuroda, T.S.2    Mikoshiba, K.3
  • 15
    • 0032576622 scopus 로고    scopus 로고
    • Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin v function in vivo
    • DOI 10.1083/jcb.143.7.1899
    • Wu X, Bowers B, Rao K, Wei Q, Hammer JA III (1998) Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function In vivo. J Cell Biol 143: 1899-1918. doi:10.1083/jcb.143. 7.1899. PubMed: 9864363. (Pubitemid 29022612)
    • (1998) Journal of Cell Biology , vol.143 , Issue.7 , pp. 1899-1918
    • Wu, X.1    Bowers, B.2    Rao, K.3    Wei, Q.4    Hammer III, J.A.5
  • 17
    • 0037165662 scopus 로고    scopus 로고
    • Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions
    • DOI 10.1016/S0014-5793(02)02634-0, PII S0014579302026340
    • Nagashima K, Torii S, Yi Z, Igarashi M, Okamoto K et al. (2002) Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions. FEBS Lett 517: 233-238. doi:10.1016/S0014-5793(02)02634-0. PubMed: 12062444. (Pubitemid 34327666)
    • (2002) FEBS Letters , vol.517 , Issue.1-3 , pp. 233-238
    • Nagashima, K.1    Torii, S.2    Yi, Z.3    Igarashi, M.4    Okamoto, K.5    Takeuchi, T.6    Izumi, T.7
  • 18
    • 65549160015 scopus 로고    scopus 로고
    • Griscelli syndrome: A model system to study vesicular trafficking
    • doi:10.1111/j.1755-148X.2009.00558.x
    • Van Gele M, Dynoodt P, Lambert J (2009) Griscelli syndrome: a model system to study vesicular trafficking. Pigment. Cell - Melanoma Res 22: 268-282. doi:10.1111/j.1755-148X.2009.00558.x.
    • (2009) Pigment. Cell - Melanoma Res , vol.22 , pp. 268-282
    • Van Gele, M.1    Dynoodt, P.2    Lambert, J.3
  • 19
    • 0030914460 scopus 로고    scopus 로고
    • Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene
    • Erratum: Nat Genet 23: 373
    • Pastural E, Barrat FJ, Dufourcq-Lagelouse R, Certain S, Sanal O, et al. (1997) Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 16: 289-292. Erratum: Nat Genet 23: 373
    • (1997) Nat Genet , vol.16 , pp. 289-292
    • Pastural, E.1    Barrat, F.J.2    Dufourcq-Lagelouse, R.3    Certain, S.4    Sanal, O.5
  • 24
    • 77952378278 scopus 로고    scopus 로고
    • Whole-genome SNP association in the horse: Identification of a deletion in myosin Va responsible for lavender foal syndrome
    • PubMed: 20419149
    • Brooks SA, Gabreski N, Miller D, Brisbin A, Brown HE et al. (2010) Whole-genome SNP association in the horse: identification of a deletion in myosin Va responsible for lavender foal syndrome. PLoS Genet 4: e1000909. PubMed: 20419149.
    • (2010) PLoS Genet , vol.4
    • Brooks, S.A.1    Gabreski, N.2    Miller, D.3    Brisbin, A.4    Brown, H.E.5
  • 25
    • 33750520133 scopus 로고    scopus 로고
    • A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes
    • DOI 10.1091/mbc.E06-05-0457
    • Hume AN, Tarafder AK, Ramalho JS, Sviderskaya EV, Seabra MC (2006) A coiled-coil domain of melanophilin is essential for Myosin Va recruitment and melanosome transport in melanocytes. Mol Biol Cell 17: 4720-4735. doi:10.1091/mbc.E06-05-0457. PubMed: 16914517. (Pubitemid 44665742)
    • (2006) Molecular Biology of the Cell , vol.17 , Issue.11 , pp. 4720-4735
    • Hume, A.N.1    Tarafder, A.K.2    Ramalho, J.S.3    Sviderskaya, E.V.4    Seabra, M.C.5
  • 27
    • 34548426013 scopus 로고    scopus 로고
    • A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs
    • DOI 10.1093/jhered/esm021
    • Drögemüller C, Philipp U, Haase B, Günzel-Apel A-R, Leeb T (2007) A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs. J Hered 98: 468-473. doi:10.1093/jhered/esm021. PubMed: 17519392. (Pubitemid 47357579)
    • (2007) Journal of Heredity , vol.98 , Issue.5 , pp. 468-473
    • Drogemuller, C.1    Philipp, U.2    Haase, B.3    Gunzel-Apel, A.-R.4    Leeb, T.5
  • 28
    • 84865556413 scopus 로고    scopus 로고
    • The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature
    • doi:10.1186/1471-2164-13-442. PubMed: 22937744
    • Bed'hom B, Vaez M, Coville JL, Gourichon D, Chastel O et al. (2012) The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature. BMC Genomics 13: 442. doi:10.1186/1471-2164-13-442. PubMed: 22937744.
    • (2012) BMC Genomics , vol.13 , pp. 442
    • Bed'hom, B.1    Vaez, M.2    Coville, J.L.3    Gourichon, D.4    Chastel, O.5
  • 29
    • 0022555839 scopus 로고
    • Splicing of messenger RNA precursors
    • Padgett RA, Grabowski PJ, Konarska MM, Seiler S, Sharp PA (1986) Splicing of messenger RNA precursors. Annu Rev Biochem 55: 1119-1150. doi:10.1146/annurev.bi.55.070186.005351. PubMed: 2943217. (Pubitemid 16070797)
    • (1986) Annual Review of Biochemistry , vol.VOL. 55 , pp. 1119-1150
    • Padgett, R.A.1    Grabowski, P.J.2    Konarska, M.M.3
  • 30
    • 73949094341 scopus 로고    scopus 로고
    • Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity
    • doi:10.1530/EJE-09-0583. PubMed: 19812236
    • David A, Miraki-Moud F, Shaw NJ, Savage MO, Clark AJ et al. (2010) Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity. Eur J Endocrinol 162: 37-42. doi:10.1530/EJE-09-0583. PubMed: 19812236.
    • (2010) Eur J Endocrinol , vol.162 , pp. 37-42
    • David, A.1    Miraki-Moud, F.2    Shaw, N.J.3    Savage, M.O.4    Clark, A.J.5
  • 31
    • 0033767549 scopus 로고    scopus 로고
    • Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation
    • doi:10.1002/1098-2264(2000)9999:9999. PubMed: 11066084
    • Clarke LA, Veiga I, Isidro G, Jordan P, Ramos JS et al. (2000) Pathological exon skipping in an HNPCC proband with MLH1 splice acceptor site mutation. Genes Chromosomes Cancer 29: 367-370. doi:10.1002/1098-2264(2000)9999: 9999. PubMed: 11066084.
    • (2000) Genes Chromosomes Cancer , vol.29 , pp. 367-370
    • Clarke, L.A.1    Veiga, I.2    Isidro, G.3    Jordan, P.4    Ramos, J.S.5
  • 32
    • 0023936038 scopus 로고
    • A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS 2
    • doi:10.1093/nar/16.11.4927. PubMed: 3387213
    • Beldjord C, Lapoumeroulie C, Pagnier J, Benabadji M, Krishnamoorthy R et al. (1988) A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3′ end of IVS 2. Nucleic Acids Res 16: 4927-4935. doi:10.1093/nar/16.11.4927. PubMed: 3387213.
    • (1988) Nucleic Acids Res , vol.16 , pp. 4927-4935
    • Beldjord, C.1    Lapoumeroulie, C.2    Pagnier, J.3    Benabadji, M.4    Krishnamoorthy, R.5
  • 33
    • 0029064776 scopus 로고
    • A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: Evidence for an increased hnRNP C interaction
    • doi:10.1093/nar/23.17.3419. PubMed: 7567451
    • Sébillon P, Beldjord C, Kaplan JC, Brody E, Marie J (1995) A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction. Nucleic Acids Res 23: 3419-3425. doi:10.1093/nar/23.17. 3419. PubMed: 7567451.
    • (1995) Nucleic Acids Res , vol.23 , pp. 3419-3425
    • Sébillon, P.1    Beldjord, C.2    Kaplan, J.C.3    Brody, E.4    Marie, J.5
  • 34
    • 0025762515 scopus 로고
    • Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations
    • PubMed: 2001456
    • Murru S, Loudianos G, Deiana M, Camaschella C, Sciarratta GV et al. (1991) Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations. Blood 77: 1342-1347. PubMed: 2001456.
    • (1991) Blood , vol.77 , pp. 1342-1347
    • Murru, S.1    Loudianos, G.2    Deiana, M.3    Camaschella, C.4    Sciarratta, G.V.5
  • 35
    • 0029933504 scopus 로고    scopus 로고
    • Initial splice-site recognition and pairing during premRNA splicing
    • doi:10.1016/S0959-437X(96)80053-0. PubMed: 8722179
    • Reed R (1996) Initial splice-site recognition and pairing during premRNA splicing. Curr Opin Genet Dev 6: 215-220. doi:10.1016/S0959-437X(96)80053-0. PubMed: 8722179.
    • (1996) Curr Opin Genet Dev , vol.6 , pp. 215-220
    • Reed, R.1
  • 36
    • 0034256020 scopus 로고    scopus 로고
    • Alternative pre-mRNA splicing: The logic of combinatorial control
    • DOI 10.1016/S0968-0004(00)01604-2, PII S0968000400016042
    • Smith CWJ, Valcárcel J (2000) Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem Sci 25: 381-388. doi:10.1016/S0968-0004(00)01604-2. PubMed: 10916158. (Pubitemid 30497249)
    • (2000) Trends in Biochemical Sciences , vol.25 , Issue.8 , pp. 381-388
    • Smith, C.W.J.1    Valcarcel, J.2
  • 37
    • 0024808994 scopus 로고
    • The organization of 3′ splice-site sequences in mammalian introns
    • doi:10.1101/gad.3.12b.2113. PubMed: 2628164
    • Reed R (1989) The organization of 3′ splice-site sequences in mammalian introns. Genes Dev 3: 2113-2123. doi:10.1101/gad.3.12b.2113. PubMed: 2628164.
    • (1989) Genes Dev , vol.3 , pp. 2113-2123
    • Reed, R.1
  • 38
    • 0026794668 scopus 로고
    • The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
    • PubMed: 1427786
    • Krawczak M, Reiss J, Cooper DN (1992) The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90: 41-54. PubMed: 1427786.
    • (1992) Hum Genet , vol.90 , pp. 41-54
    • Krawczak, M.1    Reiss, J.2    Cooper, D.N.3
  • 39
    • 0027233694 scopus 로고
    • A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing
    • Roscigno RF, Weiner M, Garcia-Blanco MA (1993) A mutational analysis of the polypyrimidine tract of introns. Effects of sequence differences in pyrimidine tracts on splicing. J Biol Chem 268: 11222-11229. PubMed: 8496178. (Pubitemid 23162315)
    • (1993) Journal of Biological Chemistry , vol.268 , Issue.15 , pp. 11222-11229
    • Roscigno, R.F.1    Weiner, M.2    Garcia-Blanco, M.A.3
  • 40
    • 0030944113 scopus 로고    scopus 로고
    • Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intronsplice site
    • Haire RN, Ohta Y, Strong SJ, Litman RT, Liu Y et al. (1997) Unusual patterns of exon skipping in Bruton tyrosine kinase are associated with mutations involving the intronsplice site. Am J Hum Genet 60: 798-807. p. 17 3
    • (1997) Am J Hum Genet , vol.60
    • Haire, R.N.1    Ohta, Y.2    Strong, S.J.3    Litman, R.T.4    Liu, Y.5
  • 41
    • 0027172452 scopus 로고
    • Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations
    • Schneider S, Wildhardt G, Ludwig R, Royer-Pokora B (1993) Exon skipping due to a mutation in a donor splice site in the WT-1 gene is associated with Wilms' tumor and severe genital malformations. Hum Genet 91: 599-604. PubMed: 8393425. (Pubitemid 23241006)
    • (1993) Human Genetics , vol.91 , Issue.6 , pp. 599-604
    • Schneder, S.1    Wildhard, G.2    Ludwig, R.3    Royer-Pokora, B.4
  • 42
    • 0029794493 scopus 로고    scopus 로고
    • Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease
    • Aoshima M, Nunoi H, Shimazu M, Shimizu S, Tatsuzawa O et al. (1996) Two-exon skipping due to a point mutation in p67-phox - deficient chronic granulomatous disease. Blood 88: 1841-1845. PubMed: 8781442. (Pubitemid 26307082)
    • (1996) Blood , vol.88 , Issue.5 , pp. 1841-1845
    • Aoshima, M.1    Nunoi, H.2    Shimazu, M.3    Shimizu, S.4    Tatsuzawa, O.5    Kenney, R.T.6    Kanegasaki, S.7
  • 43
    • 0035853287 scopus 로고    scopus 로고
    • A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition
    • DOI 10.1006/jmbi.2001.4561
    • Fang LJ, Simard MJ, Vidaud D, Assouline B, Lemieux B et al. (2001) A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition. J Mol Biol 307: 1261-1270. doi:10.1006/jmbi.2001.4561. PubMed: 11292340. (Pubitemid 33027638)
    • (2001) Journal of Molecular Biology , vol.307 , Issue.5 , pp. 1261-1270
    • Fang, L.J.1    Simard, M.J.2    Vidaud, D.3    Assouline, B.4    Lemieux, B.5    Vidaud, M.6    Chabot, B.7    Thirion, J.-P.8
  • 44
    • 0036724443 scopus 로고    scopus 로고
    • Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I
    • DOI 10.1086/342099
    • Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H et al. (2002) Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet 71: 451-465. doi:10.1086/342099. PubMed: 12145749. (Pubitemid 34970118)
    • (2002) American Journal of Human Genetics , vol.71 , Issue.3 , pp. 451-465
    • Takahara, K.1    Schwarze, U.2    Imamura, Y.3    Hoffman, G.G.4    Toriello, H.5    Smith, L.T.6    Byers, P.H.7    Greenspan, D.S.8
  • 45
    • 33846935651 scopus 로고    scopus 로고
    • Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human Succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene
    • DOI 10.1016/j.ymgme.2006.10.010, PII S1096719206003568
    • Yamada K, Fukao T, Zhang G, Sakurai S, Ruiter JP et al. (2007) Single-base substitution at the last nucleotide of exon 6 (c.671GA), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT). Gene - Mol Genet Metab 90: 291-297. doi:10.1016/j.ymgme. 2006.10.010. (Pubitemid 46241906)
    • (2007) Molecular Genetics and Metabolism , vol.90 , Issue.3 SPEC. ISS. , pp. 291-297
    • Yamada, K.1    Fukao, T.2    Zhang, G.3    Sakurai, S.4    Ruiter, J.P.N.5    Wanders, R.J.A.6    Kondo, N.7
  • 46
    • 84873998647 scopus 로고    scopus 로고
    • Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5ga in OXCT1 gene: Study on intermediates of OXCT1 transcripts in fibroblasts
    • doi:10.1002/humu.22258. PubMed: 23281106
    • Hori T, Fukao T, Murase K, Sakaguchi N, Harding CO et al. (2013) Molecular basis of two-exon skipping (exons 12 and 13) by c.1248+5ga in OXCT1 gene: Study on intermediates of OXCT1 transcripts in fibroblasts. Hum Mutat 34: 473-480. doi:10.1002/humu.22258. PubMed: 23281106.
    • (2013) Hum Mutat , vol.34 , pp. 473-480
    • Hori, T.1    Fukao, T.2    Murase, K.3    Sakaguchi, N.4    Harding, C.O.5
  • 48
    • 84985287343 scopus 로고
    • A new, less toxic polymerisation system for the embedding of soft tissues in glycol methacrylate and subsequent preparing of serial sections
    • doi:10.1111/j.1365-2818.1983.tb04711.x. PubMed: 6361264
    • Gerrits PO, Smid L (1983) A new, less toxic polymerisation system for the embedding of soft tissues in glycol methacrylate and subsequent preparing of serial sections. J Microsc 132: 81-85. doi:10.1111/j.1365-2818.1983.tb04711.x. PubMed: 6361264.
    • (1983) J Microsc , vol.132 , pp. 81-85
    • Gerrits, P.O.1    Smid, L.2
  • 49
    • 0020959512 scopus 로고
    • The effects of embedding in water-soluble plastics on the final dimensions of liver sections
    • Hanstede JG, Gerrits PO (1983) The effects of embedding in watersoluble plastics on the final dimensions of liver sections. J Microsc 131: 79-86. doi:10.1111/j.1365-2818.1983.tb04233.x. PubMed: 6350599. (Pubitemid 13050517)
    • (1983) Journal of Microscopy , vol.131 , Issue.1 , pp. 79-86
    • Hanstede, J.G.1    Gerrits, P.O.2
  • 50
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • doi:10.1038/nmeth0410-248. PubMed: 20354512
    • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A et al. (2010) A method and server for predicting damaging missense mutations. Nat Methods 7: 248-249. doi:10.1038/nmeth0410-248. PubMed: 20354512.
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3    Ramensky, V.E.4    Gerasimova, A.5
  • 51
    • 43149106728 scopus 로고    scopus 로고
    • Establishment of a new mismatch PCR-RFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India
    • DOI 10.1111/j.1365-2516.2008.01704.x
    • Quadros L, Ghosh K, Shetty S (2008) Establishment of a new mismatch PCR-RFLP technique for detection of G10430A common mutation present in moderate to mild haemophilia B patients belonging to Gujarati community from the western part of India. Haemophilia 14: 628-629. doi:10.1111/j.1365-2516.2008.01704.x. PubMed: 18393981. (Pubitemid 351638758)
    • (2008) Haemophilia , vol.14 , Issue.3 , pp. 628-629
    • Quadros, L.1    Ghosh, K.2    Shetty, S.3
  • 52
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • DOI 10.1093/bioinformatics/bth457
    • Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: 263-265. doi:10.1093/bioinformatics/bth457. PubMed: 15297300. (Pubitemid 40202029)
    • (2005) Bioinformatics , vol.21 , Issue.2 , pp. 263-265
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.