Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population

Clinical Biochemistry

Volumn 40, Issue 5-6, 2007, Pages 414-415

  Lukac Bajalo, Jana ^a   Kuzelicki, Natasa Karas ^a   Zitnik, Irena Prodan ^a   Mencej, Simona ^a   Battelino, Tadej ^b  

^a UNIVERSITY OF LJUBLJANA   (Slovenia)

^b UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

Author keywords

Galactosaemia; GALT gene; Mutation K285N; Slovenian population

Indexed keywords

DNA; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

ADULT; ALLELE; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DNA DETERMINATION; FEMALE; GALACTOSEMIA; GENE FREQUENCY; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NORMAL HUMAN; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SLOVENIA;

ADULT; AMINO ACID SUBSTITUTION; FEMALE; GALACTOSEMIAS; GENE FREQUENCY; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SLOVENIA; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 33847206400     PISSN: 00099120     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clinbiochem.2006.11.004     Document Type: Article

References (10)

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