Inherited cobalamin malabsorption. Mutations in three genes reveal functional and ethnic patterns

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Tanner, Stephan M ^a   Sturm, Amy C ^a,b   Baack, Elizabeth C ^b   Liyanarachchi, Sandya ^a   De La Chapelle, Albert ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b OHIO STATE UNIVERSITY   (United States)

Author keywords

Amnionless; Ancestry; Cobalamin; Cubilin; Founder mutation; Gastric intrinsic factor; Genetic heterogeneity; Genetic testing; Hereditary cobalamin malabsorption; Vitamin B12

Indexed keywords

AMN GENE; ARTICLE; CONTROLLED STUDY; CUBN GENE; DNA SEQUENCE; GENE MUTATION; GENETIC SCREENING; GIF GENE; HUMAN; INHERITED COBALAMIN MALABSORPTION; MAJOR CLINICAL STUDY; MALABSORPTION; NUCLEOTIDE SEQUENCE; RNA SEQUENCE; SINGLE STRAND CONFORMATION POLYMORPHISM;

ETHNIC GROUPS; FEMALE; FOUNDER EFFECT; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENETIC TESTING; HUMANS; INTRINSIC FACTOR; MALABSORPTION SYNDROMES; MALE; MUTATION; PROTEINS; PROTEINURIA; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 84865321784     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-56     Document Type: Article

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