Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)
Kozák, Libor, Francová, Hana, Fajkusová, Lenka, Pijácková, Anna, Macku, Jindriška, Štastná, Sylvie, Peškovová, Karolína, Martincová, Olga, Krijt, Jakub, Bzdúch, Vladimír
Published in Human mutation (01.02.2000)
Published in Human mutation (01.02.2000)
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Journal Article
Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles
KOZÁK, LIBOR, FRANCOVÁ, HANA, PIJÁCKOVÁ, ANNA, MACKU, JINDRIŠKA, ŠTASTNÁ, SYLVIE, PEŠKOVOVÁ, KAROLÍNA, MARTINCOVÁ, OLGA, KRIJT, JAKUB
Published in Journal of medical genetics (01.07.1999)
Published in Journal of medical genetics (01.07.1999)
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Journal Article