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Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

✍ Scribed by Robert Dobrovolny; Lenka Dvorakova; Jana Ledvinova; Sudheera Magage; Jan Bultas; Jean C. Lubanda; Milan Elleder; Debora Karetova; Marketa Pavlikova; Martin Hrebicek

Publisher
Springer
Year
2005
Tongue
English
Weight
191 KB
Volume
83
Category
Article
ISSN
0946-2716

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Mutation analysis of the GALT gene in Cz
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 Pijácková; Jindriška Macku; Sy 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 48 KB 👁 2 views

A study of the galactose-1-phosphate uridyltransferase (GALT) gene from 37 unrelated galactosemia families is reported here. A total of 16 sequence variations in eleven mutated alleles was found. The two most common molecular defects were the mutations Q188R (46.0%) and K285N (25.7%). Six novel muta