Juvenile cobalamin deficiency in individuals of African ancestry is caused by a founder mutation in the intrinsic factor gene GIF

British Journal of Haematology

Volumn 144, Issue 4, 2009, Pages 622-624

  Ament, Andrea E ^a   Li, Zhongyuan ^a   Sturm, Amy C ^a,b   Perko, James D ^a   Lawson, Sarah ^c   Masterson, Margaret ^d   Quadros, Edward V ^e   Tanner, Stephan M ^a  

^a OHIO STATE UNIVERSITY   (United States)

^b OHIO STATE UNIVERSITY   (United States)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^d ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^e SUNY DOWNSTATE MEDICAL CENTER   (United States)

Author keywords

African ethnicity; Cobalamin (vitamin B12); Founder mutation; Juvenile cobalamin deficiency; Mutation detection

Indexed keywords

ALCOHOL; CHLOROFORM; COBALAMIN; GENOMIC DNA; INTRINSIC FACTOR; PHENOL;

AFRICA; DEVELOPMENTAL DISORDER; DISEASE CLASSIFICATION; DOMINANT INHERITANCE; FRAMESHIFT MUTATION; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC RECOMBINATION; GIF GENE; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LABORATORY TEST; LETTER; MEGALOBLASTIC ANEMIA; MICROSATELLITE MARKER; NUTRITIONAL ASSESSMENT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOCIOECONOMICS; VITAMIN DEFICIENCY;

AFRICAN CONTINENTAL ANCESTRY GROUP; CHILD; FEMALE; FOUNDER EFFECT; HUMANS; INTRINSIC FACTOR; MALE; MUTATION; PEDIGREE; VITAMIN B 12 DEFICIENCY;

EID: 58549094505     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2008.07496.x     Document Type: Letter

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