Frequency distribution of the Los Angeles and Duarte galactose-1-phosphate uridyltransferase variant alleles in the Irish population

Molecular Genetics and Metabolism

Volumn 82, Issue 4, 2004, Pages 345-347

  Tighe, Orna ^a,b   Flanagan, Jonathon M ^a,b   Kernan, Fiona ^b   O'Neill, Charles ^a   Naughten, Eileen ^a   Mayne, Philip D ^a   Croke, David T ^b  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

Author keywords

Duarte (D2) allele; Galactosaemia; Galactose 1 phosphate uridyltransferase; Los Angeles (D1) allele; N314D

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ALLELE; ARTICLE; BLOOD SAMPLING; CONTROLLED STUDY; EUROPE; GENETIC VARIABILITY; GENOTYPE; HUMAN; IRELAND; MAJOR CLINICAL STUDY; MEDICAL LITERATURE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCREENING TEST; UNITED STATES;

ALLELES; AMINO ACID SUBSTITUTION; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GALACTOSEMIAS; GENE FREQUENCY; HUMANS; IRELAND; MALE; SYNDROME; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 4043092135     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2004.06.005     Document Type: Article

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