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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
Language English Country United States
Grant support
IZ4376
MZ0
CEP Register
Digital library NLK
Full text - Část
Source
NLK
ProQuest Central
from 1997-01-01 to 2007-12-31
Health & Medicine (ProQuest)
from 1997-01-01 to 2007-12-31
Wiley Online Library (archiv)
from 1996-01-01 to 2012-12-31
Public Health Database (ProQuest)
from 1997-01-01 to 2007-12-31
- MeSH
- Galactosemias genetics MeSH
- Humans MeSH
- Mutation genetics MeSH
- DNA Mutational Analysis MeSH
- UTP-Hexose-1-Phosphate Uridylyltransferase genetics MeSH
- Check Tag
- Humans 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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