Identification of mutations in the galac
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Volkan Seyrantepe; Meral Ozguc; Turgay Coskun; Imran Ozalp; Juergen KV Reichardt
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Article
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1999
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John Wiley and Sons
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English
โ 42 KB
๐ 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