메뉴 건너뛰기




Volumn 23, Issue 10, 2002, Pages 1251-1256

Linkage analysis of a large inbred family with congenital megaloblastic anemia

Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; CYANOCOBALAMIN; HAPTOCORRIN; INTRINSIC FACTOR; TRANSCOBALAMIN II;

EID: 0036816415     PISSN: 03795284     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (6)

References (25)
  • 1
    • 0029132162 scopus 로고
    • Inherited errors of cobalamin metabolism and their management
    • Linnell JC, Bhatt HR. Inherited errors of cobalamin metabolism and their management. Baillieres Clin Haematol 1995; 8: 567-601.
    • (1995) Baillieres Clin. Haematol. , vol.8 , pp. 567-601
    • Linnell, J.C.1    Bhatt, H.R.2
  • 2
    • 0000526332 scopus 로고
    • Inherited disorders of cobalamin transport and metabolism
    • Scriver CR, Baudet AL, Sly WS, Valle D, editors. 7th ed. New York (NY): McGraw-Hill
    • Fenton WA, Rosenberg LE. Inherited disorders of cobalamin transport and metabolism. In: Scriver CR, Baudet AL, Sly WS, Valle D, editors. The molecular and metabolic basis of inherited diseases. 7th ed. New York (NY): McGraw-Hill; 1995. p. 3129-3149.
    • (1995) The Molecular and Metabolic Basis of Inherited Diseases , pp. 3129-3149
    • Fenton, W.A.1    Rosenberg, L.E.2
  • 3
    • 0032525203 scopus 로고    scopus 로고
    • The human intrinsic factor-vitamin B 12 receptor, cubilin: Molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGAI) region
    • Kozyraki R, Kristiansen M, Silahtaroglu A, Hansen C, Jacobsen C, Tommerup N et al. The human intrinsic factor-vitamin B 12 receptor, cubilin: Molecular characterization and chromosomal mapping of the gene to 10p within the autosomal recessive megaloblastic anemia (MGAI) region. Blood 1998; 91: 3593-3600.
    • (1998) Blood , vol.91 , pp. 3593-3600
    • Kozyraki, R.1    Kristiansen, M.2    Silahtaroglu, A.3    Hansen, C.4    Jacobsen, C.5    Tommerup, N.6
  • 5
    • 0028287636 scopus 로고
    • Characterization of the human placental membrane receptor for transcobalamin II-cobalamin
    • Quadros E, Sai P, Rothenberg S. Characterization of the human placental membrane receptor for transcobalamin II-cobalamin. Arch Biochem Biophys 1994; 308: 192-199.
    • (1994) Arch. Biochem. Biophys. , vol.308 , pp. 192-199
    • Quadros, E.1    Sai, P.2    Rothenberg, S.3
  • 6
    • 0014313552 scopus 로고
    • Congenital pernicious anemia: Effects on growth, brain, and absorption of B12
    • McNicholl B, Egan B. Congenital pernicious anemia: effects on growth, brain, and absorption of B12. Pediatrics 1968; 42: 149-156.
    • (1968) Pediatrics , vol.42 , pp. 149-156
    • McNicholl, B.1    Egan, B.2
  • 7
    • 0020687219 scopus 로고
    • Gastric juice in congenital pernicious anemia contains no immunoreactive intrinsic factor molecule: Study of three kindreds with variable ages at presentation, including a patient first diagnosed in adulthood
    • Carmel R. Gastric juice in congenital pernicious anemia contains no immunoreactive intrinsic factor molecule: Study of three kindreds with variable ages at presentation, including a patient first diagnosed in adulthood. Am J Hum Genet 1983; 35: 67-77.
    • (1983) Am. J. Hum. Genet. , vol.35 , pp. 67-77
    • Carmel, R.1
  • 8
    • 0015531035 scopus 로고
    • Vitamin B(12) malabsorption due to biologically inert intrinsic factor
    • Katz M, Lee SK, Cooper BA. Vitamin B(12) malabsorption due to biologically inert intrinsic factor. N Eng J Med 1972; 287: 425-429.
    • (1972) N. Eng. J. Med. , vol.287 , pp. 425-429
    • Katz, M.1    Lee, S.K.2    Cooper, B.A.3
  • 9
    • 0016158547 scopus 로고
    • Isolation and characterization of an abnormal human intrinsic factor
    • Katz M, Mehlman CS, Allen RH. Isolation and characterization of an abnormal human intrinsic factor. J Clin Invest 1974; 53: 1274-1283.
    • (1974) J. Clin. Invest. , vol.53 , pp. 1274-1283
    • Katz, M.1    Mehlman, C.S.2    Allen, R.H.3
  • 10
    • 0022369431 scopus 로고
    • Cobalamin malabsorption in three siblings due to an abnormal intrinsic factor that is markedly susceptible to acid and proteolysis
    • Yang YM, Ducos R, Rosenberg AJ, Catrou PG, Levine JS, Podell ER et al. Cobalamin malabsorption in three siblings due to an abnormal intrinsic factor that is markedly susceptible to acid and proteolysis. J Clin Invest 1985; 76: 2057-2065.
    • (1985) J. Clin. Invest. , vol.76 , pp. 2057-2065
    • Yang, Y.M.1    Ducos, R.2    Rosenberg, A.J.3    Catrou, P.G.4    Levine, J.S.5    Podell, E.R.6
  • 11
    • 0026094535 scopus 로고
    • Human gastric intrinsic factor: Characterization of cDNA and genomic clones and localization to human chromosome 11
    • Hewitt JE, Gordon MM, Taggart RT, Mobandas TK, Alpers DH. Human gastric intrinsic factor: Characterization of cDNA and genomic clones and localization to human chromosome 11. Genomics 1991; 10: 432-440.
    • (1991) Genomics , vol.10 , pp. 432-440
    • Hewitt, J.E.1    Gordon, M.M.2    Taggart, R.T.3    Mobandas, T.K.4    Alpers, D.H.5
  • 12
    • 0032054935 scopus 로고    scopus 로고
    • The mouse homologs of human GIF, DDB1, and CFL1 genes are located on chromosome 19
    • Fernandes M, Poirier C, Lespinasse F, Carle GF. The mouse homologs of human GIF, DDB1, and CFL1 genes are located on chromosome 19. Mammalian Genome 1998; 9: 339-342.
    • (1998) Mammalian Genome , vol.9 , pp. 339-342
    • Fernandes, M.1    Poirier, C.2    Lespinasse, F.3    Carle, G.F.4
  • 13
    • 72849184034 scopus 로고
    • Idiopathic chronic megaloblastic anemia in children
    • Imerslund 0. Idiopathic chronic megaloblastic anemia in children. Acta Paediatr 196O; 49 Supp] 119: 3-65.
    • (1960) Acta Paediatr. , vol.49 , Issue.SUPPL. 119 , pp. 3-65
    • Imerslund, O.1
  • 14
    • 0001601083 scopus 로고
    • Selective vitamin B12 malabsorption and proteinuria in young people: A syndrome
    • Grasbeck R, Gordin R, Kantero I, Kuhlback B. Selective vitamin B12 malabsorption and proteinuria in young people: A syndrome. Acta Med Scand 1960; 167: 289-296.
    • (1960) Acta Med. Scand. , vol.167 , pp. 289-296
    • Grasbeck, R.1    Gordin, R.2    Kantero, I.3    Kuhlback, B.4
  • 15
    • 0029101674 scopus 로고
    • Selective intestinal malabsorption of vitamin B12 displays recessive Mendelian inheritance: Assignment of a locus to chromosome 10 by linkage
    • Aminoff M, Tahvanainen E, Grasbeck R, Weissenbach J, Broch H, de la Chapelle A. Selective intestinal malabsorption of vitamin B12 displays recessive Mendelian inheritance: Assignment of a locus to chromosome 10 by linkage. Am J Hum Genet 1995; 57: 824-831.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 824-831
    • Aminoff, M.1    Tahvanainen, E.2    Grasbeck, R.3    Weissenbach, J.4    Broch, H.5    de la Chapelle, A.6
  • 16
    • 0033051889 scopus 로고    scopus 로고
    • Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anemia
    • Aminoff M, Carter JE, Chadwick RB, Johnson C, Grasbeck R, Abdelaal MA et al. Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anemia. Nat Genet 1999; 21: 309-313.
    • (1999) Nat. Genet. , vol.21 , pp. 309-313
    • Aminoff, M.1    Carter, J.E.2    Chadwick, R.B.3    Johnson, C.4    Grasbeck, R.5    Abdelaal, M.A.6
  • 17
    • 0025945537 scopus 로고
    • Transcobalamin II deficiency: Case report and review of the literature
    • Kaikov Y, Wadsworth LD, Hall CA, Rogers PCJ. Transcobalamin II deficiency: Case report and review of the literature. Eur J Pediatr 1991; 150: 841-843.
    • (1991) Eur. J. Pediatr. , vol.150 , pp. 841-843
    • Kaikov, Y.1    Wadsworth, L.D.2    Hall, C.A.3    Rogers, P.C.J.4
  • 18
    • 0022448442 scopus 로고
    • Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22
    • Eiberg H, Moller N, Mohr J, Nielsen LS. Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22. Clin Genet 1986; 29: 354-359.
    • (1986) Clin. Genet. , vol.29 , pp. 354-359
    • Eiberg, H.1    Moller, N.2    Mohr, J.3    Nielsen, L.S.4
  • 19
    • 0022894907 scopus 로고
    • Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells
    • Arwert F, Porck HJ, Frater-Schroder M, Brahe C, Geurts van Kessel A, Westerveld A et al. Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells. Hum Genet 1986; 74: 378-381.
    • (1986) Hum. Genet. , vol.74 , pp. 378-381
    • Arwert, F.1    Porck, H.J.2    Frater-Schroder, M.3    Brahe, C.4    Geurts van Kessel, A.5    Westerveld, A.6
  • 20
    • 0028898342 scopus 로고
    • Genomic structure of human transcobalamin II: Comparison to human intrinsic factor and transcobalamin I
    • Li N, Seetharam S, Seetharam B. Genomic structure of human transcobalamin II: Comparison to human intrinsic factor and transcobalamin I. Biochem Biophys Res Commun 1995; 208: 756-764.
    • (1995) Biochem. Biophys. Res. Commun. , vol.208 , pp. 756-764
    • Li, N.1    Seetharam, S.2    Seetharam, B.3
  • 21
    • 0026596803 scopus 로고
    • Genomic structure and mapping of the chromosomal gene for transcobalamin I (TCN1): Comparison to human intrinsic factor
    • Johnston J, Yang-Feng T, Berliner N. Genomic structure and mapping of the chromosomal gene for transcobalamin I (TCN1): Comparison to human intrinsic factor. Genomics 1992; 12: 459-464.
    • (1992) Genomics , vol.12 , pp. 459-464
    • Johnston, J.1    Yang-Feng, T.2    Berliner, N.3
  • 23
  • 24
    • 0025835296 scopus 로고
    • Fast and sensitive silver staining of DNA in polyacrylamide gels
    • Bassani BJ, Caetano-Anolles G, Gresshoff PM. Fast and sensitive silver staining of DNA in polyacrylamide gels. Anal Biochem 1991; 196: 80-83.
    • (1991) Anal. Biochem. , vol.196 , pp. 80-83
    • Bassani, B.J.1    Caetano-Anolles, G.2    Gresshoff, P.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.