The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients

Genetics in Medicine

Volumn 7, Issue 9, 2005, Pages 646-649

  Park, Hyung Doo ^a   Kyung, Un Park ^a,b   Kim, Jin Q ^a   Choong, Ho Shin ^a   Sei, Won Yang ^a   Dong, Hwan Lee ^c   Song, Young Han ^d   Song, Junghan ^a,b  

^a Seoul National University   (South Korea)

^b Seoul National University Bundang Hospital   (South Korea)

^c Soonchunhyang University   (South Korea)

^d Hallym University   (South Korea)

Author keywords

Galactosemia; Korean; Mutation; UDP galactose 4 epimerase (GALE)

Indexed keywords

URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GALACTOSEMIA; GENE EXPRESSION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; INFANT; KOREA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEWBORN; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; URIDINE DIPHOSPHATE GALACTOSE 4 EPIMERASE DEFICIENCY;

DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA RESTRICTION ENZYMES; GALACTOSEMIAS; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; KOREA; MUTATION; PHOSPHORIC MONOESTER HYDROLASES; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SEQUENCE ANALYSIS, DNA; UDPGLUCOSE 4-EPIMERASE;

EID: 28644440285     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.gim.0000194023.27802.2d     Document Type: Article

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