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Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R)
Libor Kozák, Hana Francová, Lenka Fajkusová, Anna Pijáčková, Jindřiška Macku, Sylvie Šťastná, Karolína Peškovová, Olga Martincová, Jakub Krijt, Vladimír Bzdúch
Jazyk angličtina Země Spojené státy americké
Grantová podpora
IZ4376
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Část
Zdroj
NLK
ProQuest Central
od 1997-01-01 do 2007-12-31
Health & Medicine (ProQuest)
od 1997-01-01 do 2007-12-31
Wiley Online Library (archiv)
od 1996-01-01 do 2012-12-31
Public Health Database (ProQuest)
od 1997-01-01 do 2007-12-31
- MeSH
- galaktosemie genetika MeSH
- lidé MeSH
- mutace genetika MeSH
- mutační analýza DNA MeSH
- UDP-galaktosapyrofosforylasa genetika MeSH
- Check Tag
- lidé MeSH
Institute of Inherited Metabolic Disorders Prague Czech Republic
Research Institute of Child Health Clinical Department Brno Czech Republic
Research Institute of Child Health Department of Biochemical and Molecular Genetics Brno
University Children Hospital Department of Pediatrics Bratislava Slovak Republic
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