Hereditary Juvenile Cobalamin Deficiency Caused by Mutations in the Intrinsic Factor Gene

Hereditary juvenile megaloblastic anemia due to vitamin B12(cobalamin) deficiency is caused by intestinal malabsorption of cobalamin. In Imerslund-Gräsbeck syndrome (IGS), cobalamin absorption is completely abolished and not corrected by the administration of intrinsic factor (IF); if untreated, the...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2005-03, Vol.102 (11), p.4130-4133
Hauptverfasser:	Tanner, Stephan M., Li, Zhongyuan, Perko, James D., Öner, Cihan, Çetin, Mualla, Altay, Çiğdem, Yurtsever, Zekiye, David, Karen L., Faivre, Laurence, Ismail, Essam A., Gräsbeck, Ralph, de la Chapelle, Albert
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia Biological Sciences Chromosome Mapping Chromosomes, Human, Pair 11 Deficiency diseases Diagnostic tests DNA Exons Female Genes Genetic diseases Genetic mutation Genomics Heredity Humans Intrinsic Factor - genetics Intrinsic Factor - metabolism Malabsorption syndromes Male Medical genetics Mutation Pedigree Pernicious anemia Tanneries Vitamin B Vitamin B 12 - metabolism Vitamin B 12 Deficiency - genetics Vitamin B 12 Deficiency - metabolism
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