Article
A novel 22bp deletion in a Tunisian phenylketonuria family.
Pathologie-biologie - 1 Dec 2012
Khemir S, Siala H, Azzouz H, Tebib N, Dhondt J L, Messaoud T, Abdelhak S, Ben Dridi M F, Kaabachi N
Abstract excerpt
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by a deficiency of phenylalanine hydroxylase. To date, more than 530 mutations in the PAH gene have been reported. In Tunisia, this disease seems to be the result of point mutations, few studies have been published about molecular defects of PKU in our country. In this study, we report a novel deletion in exon 6 of two brothers in a...
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