A Genetic Polymorphism in the Coding Region of the Gastric Intrinsic Factor Gene (GIF) is Associated with Congenital Intrinsic Factor Deficiency

Human Mutation

Volumn 23, Issue 1, 2004, Pages 85-91

  Gordon, Marilyn M ^a   Brada, Nancy ^a   Remacha, Angel ^b   Badell, Isabel ^b   Del Río, Elisabeth ^b   Baiget, Montserrat ^b   Santer, René ^c   Quadros, Edward V ^d   Rothenberg, Sheldon P ^d   Alpers, David H ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^d SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

Anemia; Congenital; Gastric intrinsic factor; GIF; Pernicious anemia; SNP

Indexed keywords

ANTIBODY; ARGININE; COMPLEMENTARY DNA; GENOMIC DNA; GLUTAMINE; INTRINSIC FACTOR; PEPSIN A;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CODON; CONGENITAL DISORDER; CONGENITAL INTRINSIC FACTOR DEFICIENCY; CONTROLLED STUDY; EXON; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC MARKER; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MEGALOBLASTIC ANEMIA; MOLECULAR SIZE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREDICTION AND FORECASTING; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN HYDROLYSIS; PROTEIN SECRETION; SEQUENCE ANALYSIS;

ADULT; ANEMIA, PERNICIOUS; ANIMALS; CHILD; CHILD, PRESCHOOL; COS CELLS; EXONS; FEMALE; GENE FREQUENCY; HUMANS; INTRINSIC FACTOR; MALE; PHENOTYPE; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 9144238746     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10297     Document Type: Article

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