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In vivo and in vitro expression of rat galactose-1-phosphate uridyltransferase (GALT) in the developing central and peripheral nervous system

✍ Scribed by Nathalie Daude; Emmanuel Ellie; Jürgen K.V. Reichardt; Klaus G. Petry;

Book ID
114134474
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
842 KB
Volume
94
Category
Article
ISSN
0165-3806

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Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y
✍ Volkan Seyrantepe; Meral Ozguc; Turgay Coskun; Imran Ozalp; Juergen KV Reichardt 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 42 KB 👁 2 views

Classical galactosemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is a severe autosomal recessive disorder. We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity. Almost 84 % of all mutant alleles were identified in this