Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency

Molecular Genetics and Metabolism

Volumn 91, Issue 3, 2007, Pages 234-238

  Park, Hyung Doo ^a   Bang, You Lim ^b   Park, Kyoung Un ^a,c   Kim, Jin Q ^a   Jeong, Byung Hoon ^b   Kim, Yong Sun ^b   Song, Young Han ^b   Song, Junghan ^a,c  

^a Seoul National University College of Medicine   (South Korea)

^b Hallym University   (South Korea)

^c Seoul National University Bundang Hospital   (South Korea)

Author keywords

Expression study; Galactokinase deficiency; Galactosemia; Korean; Mutation

Indexed keywords

GALACTITOL; GALACTOSE;

ANIMAL CELL; ARTICLE; CELL STRAIN COS7; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GALACTOKINASE DEFICIENCY; GALACTOSEMIA; GALK1 GENE; GENE; GENE EXPRESSION; GENE INSERTION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; KOREA; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ALLELES; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; GALACTOKINASE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; KOREA; MUTAGENESIS, INSERTIONAL; MUTATION, MISSENSE;

EID: 34249305835     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.04.005     Document Type: Article

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