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Mutations at the Galactose-1-P-Uridyltransferase Gene in Infants with a Positive Galactosemia Newborn Screening Test

✍ Scribed by Item, Chike; Hagerty, Brian P; Mühl, Adolf; Greber-Platzer, Susanne; StÖCkler-Ipsiroglu, Sylvia; Strobl, Wolfgang

Book ID
121303261
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
365 KB
Volume
51
Category
Article
ISSN
0031-3998

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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