Article
The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.
Clinical biochemistry - 1 Jul 2006
Mirzajani F, Mirfakhraie R, Nabati F, Tabatabaei N Naghibzadeh, Talachian E, Houshmand M
Abstract excerpt
OBJECTIVES: Classical galactosemia (McKusick 230400) is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyl transferase (GALT;EC 2.7.7.10) gene. DESIGN AND METHODS: In the present study, we report molecular analysis of 14 unrelated Iranian galactosemia children with reduced or without GALT activity using PCR-RFLP and SSCP-Sequencing methods. RESULTS: Q188R mutation was the most...
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