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Volumn 69, Issue 1, 2008, Pages 56-58

Hereditary juvenile cobalamin deficiency due to mutations in GIF gene;Déficit de cobalamina hereditario juvenil causado por mutaciones en el gen GIF

Author keywords

GIF gene; Imerslund Gr sbeck; Malabsorption of vitamin B12; Megaloblastic anaemia; Pernicious anaemia

Indexed keywords

COBALAMIN; CYANOCOBALAMIN; FOLIC ACID; HYDROXOCOBALAMIN; INTRINSIC FACTOR;

EID: 46849105486     PISSN: 16954033     EISSN: 16959531     Source Type: Journal    
DOI: 10.1157/13124221     Document Type: Article
Times cited : (5)

References (14)
  • 1
    • 33745146118 scopus 로고    scopus 로고
    • Acquiered and inherited disorders of cobalamin and folate in children. BHJ
    • Whitehead VM. Acquiered and inherited disorders of cobalamin and folate in children. BHJ. 2006;134:125-36.
    • (2006) , vol.134 , pp. 125-136
    • Whitehead, V.M.1
  • 3
    • 33745179599 scopus 로고    scopus 로고
    • Inborn errors of folate and cobalamin transport and metabolism
    • Sarafoglou K, Hoffmann G, Moran T, editors, 1st ed. New York: McGraw-Hill;
    • Morel C, Rosenblatt D. Inborn errors of folate and cobalamin transport and metabolism. En: Sarafoglou K, Hoffmann G, Moran T, editors. Essential pediatric endocrinology and metabolism. 1st ed. New York: McGraw-Hill; 2008.
    • (2008) Essential pediatric endocrinology and metabolism
    • Morel, C.1    Rosenblatt, D.2
  • 4
    • 9144238746 scopus 로고    scopus 로고
    • A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency
    • Gordon M, Brada N, Remacha A, Badell I, Del Río E, Baiget M, et al. A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. Hum Mutat. 2004;23:85-91.
    • (2004) Hum Mutat , vol.23 , pp. 85-91
    • Gordon, M.1    Brada, N.2    Remacha, A.3    Badell, I.4    Del Río, E.5    Baiget, M.6
  • 5
    • 0842307311 scopus 로고    scopus 로고
    • Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency
    • Yassin F, Rothenberg SP, Rao S, Gordon M, Alpers D, Quadros EV. Identification of a 4-base deletion in the gene in inherited intrinsic factor deficiency. Blood. 2004;103:1515-7.
    • (2004) Blood , vol.103 , pp. 1515-1517
    • Yassin, F.1    Rothenberg, S.P.2    Rao, S.3    Gordon, M.4    Alpers, D.5    Quadros, E.V.6
  • 6
    • 20144372885 scopus 로고    scopus 로고
    • Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene
    • Tanner SM, Zhongyuan L, Perko JD, Oner C, Cetin M, Altay C, et al. Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. Proc Nat Acad Sci. 2005;102:4130-3.
    • (2005) Proc Nat Acad Sci , vol.102 , pp. 4130-4133
    • Tanner, S.M.1    Zhongyuan, L.2    Perko, J.D.3    Oner, C.4    Cetin, M.5    Altay, C.6
  • 7
    • 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, Mohandas TK, Alpers DH. Human gastric intrinsic factor: Characterization of cDNA and genomic clones and localization to human chromosome 11. Genomics. 1991;10:432-40.
    • (1991) Genomics , vol.10 , pp. 432-440
    • Hewitt, J.E.1    Gordon, M.M.2    Taggart, R.T.3    Mohandas, T.K.4    Alpers, D.H.5
  • 8
    • 0002455661 scopus 로고
    • Idiopathic chronic megaloblastic anaemia in children
    • Imerslund O. Idiopathic chronic megaloblastic anaemia in children. Acta Paediatr Scand. 1960;49 Suppl. 119:1-15.
    • (1960) Acta Paediatr Scand , vol.49 , Issue.SUPPL. 119 , pp. 1-15
    • Imerslund, O.1
  • 12
    • 0037371866 scopus 로고    scopus 로고
    • Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia
    • Tanner SM, Aminoff M, Wright F, Liyanarachi S, Kuronen M, Saarinen A, et al. Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia. Nat Genet. 2003;33:426-9.
    • (2003) Nat Genet , vol.33 , pp. 426-429
    • Tanner, S.M.1    Aminoff, M.2    Wright, F.3    Liyanarachi, S.4    Kuronen, M.5    Saarinen, A.6
  • 13
    • 11144354849 scopus 로고    scopus 로고
    • 12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East
    • 12: Founder effects, consanguinity, and high clinical awareness explain aggregations in Scandinavia and the Middle East. Hum Mutat. 2004;23:327-33.
    • (2004) Hum Mutat , vol.23 , pp. 327-333
    • Tanner, S.M.1    Li, Z.2    Bisson, R.3    Acar, C.4    Oner, C.5    Oner, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.