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Radiochemical assay of minute quantities of galactose-1-phosphate uridyltransferase activity in erythrocytes and leukocytes of galactosemia patients

โœ Scribed by Yan-Kang Xu; Francine R. Kaufman; George N. Donnell; Won G. Ng

Book ID
115828166
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
593 KB
Volume
235
Category
Article
ISSN
0009-8981

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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
โœ Volkan Seyrantepe; Meral Ozguc; Turgay Coskun; Imran Ozalp; Juergen KV Reichardt ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 42 KB ๐Ÿ‘ 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