Molecular characterization of galactokinase deficiency in Japanese patients

Journal of Human Genetics

Volumn 44, Issue 6, 1999, Pages 377-382

  Asada, Minoru ^a   Okano, Yoshiyuki ^a   Imamura, Takuji ^a   Suyama, Itsujin ^b   Hase, Yutaka ^c   Isshiki, Gen ^a  

^a OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b Osaka Munic Rehab Ctr Disabled   (Japan)

^c Osaka City Public Health Center   (Japan)

Author keywords

Galactokinase (GALK); Galactosemia; Genotype; Mutation; Phenotype

Indexed keywords

DINUCLEOTIDE; GALACTOKINASE; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; LACTOSE; RNA;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CATARACT; CELL STRAIN COS1; CLINICAL ARTICLE; CONTROLLED STUDY; DELETION MUTANT; DNA LIBRARY; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; GALACTOSEMIA; GENOTYPE; HUMAN; HUMAN CELL; INFANT; INTRON; JAPAN; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; TANDEM REPEAT;

ANIMALIA; MAMMALIA;

EID: 0032727538     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050182     Document Type: Article

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