Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

Proceedings of the National Academy of Sciences of the United States of America

Volumn 102, Issue 11, 2005, Pages 4130-4133

  Tanner, Stephan M ^a   Li, Zhongyuan ^a   Perko, James D ^a   Öner, Cihan ^b   Çetin, Mualla ^b   Altay, Çiǧdem ^b   Yurtsever, Zekiye ^b   David, Karen L ^c   Faivre, Laurence ^d   Ismail, Essam A ^e   Gräsbeck, Ralph ^f   De La Chapelle, Albert ^a,g  

^a OHIO STATE UNIVERSITY   (United States)

^b HACETTEPE UNIVERSITY   (Turkey)

^c METROPOLITAN HOSPITAL CENTER   (United States)

^d DIJON UNIVERSITY HOSPITAL   (France)

^e FARWANIYA HOSPITAL   (Kuwait)

^f MINERVA FOUNDATION INSTITUTE FOR MEDICAL RESEARCH   (Finland)

^g OHIO STATE UNIVERSITY   (United States)

Author keywords

Gastric intrinsic factor; Imerslund Gr sbeck syndrome; Intrinsic factor deficiency; Megaloblastic anemia; Vitamin B12 malabsorption

Indexed keywords

COBALAMIN; CUBILIN; INTRINSIC FACTOR;

ABSORPTION; ADOLESCENT; ARTICLE; CHILD; CHILDHOOD DISEASE; CHROMOSOME 11; CONTROLLED STUDY; CYANOCOBALAMIN DEFICIENCY; FEMALE; GENE MUTATION; GENETIC LINKAGE; HUMAN; IMERSLUND GRASBECK SYNDROME; MALE; MEGALOBLASTIC ANEMIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SYNDROME;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; FEMALE; HUMANS; INTRINSIC FACTOR; MALE; MUTATION; PEDIGREE; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 20144372885     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0500517102     Document Type: Article

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