Article
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Journal of inherited metabolic disease - 1 Dec 2006
Gort L, Boleda M D, Tyfield L, Vilarinho L, Rivera I, Cardoso M L, Santos-Leite M, Girós M, Briones P
Abstract excerpt
Classical galactosaemia is an autosomal recessive inherited metabolic disorder due to deficient galactose-1-phosphate uridyltransferase (GALT). Over 180 different base changes and disease-causing mutations have been reported in the GALT gene. Mutation p.Q188R was found to be the most common molecular defect among caucasian classical galactosaemia patients. We have characterized the spectrum of GALT mutations in a...
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