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Q188R, K285N, and N314D mutation-associated alleles in the galactose-1-phosphate uridyltransferase gene and female infertility

โœ Scribed by Jana Lukac Bajalo; Simona Mencej; Natasa Karas; Barbara Mlinar; Irena Prodan Zitnik; Ksenija Gersak


Book ID
118445085
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
109 KB
Volume
83
Category
Article
ISSN
1556-5653

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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