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Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia

โœ Scribed by V. Schuster; Teodor Podskarbi; Holger Ottensmeier; Markus Haubner; Yoon Sook Shin


Publisher
Springer
Year
1998
Tongue
English
Weight
104 KB
Volume
76
Category
Article
ISSN
0946-2716

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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