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Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants

✍ Scribed by M. Sommer; B. S. Gathof; T. Podskarbi; R. Giugliani; B. Kleinlein; Y. S. Shin


Publisher
Springer
Year
1995
Tongue
English
Weight
927 KB
Volume
18
Category
Article
ISSN
0141-8955

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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