1.
Pathol Biol (Paris)
; 60(6): e87-9, 2012 Dec.
Article
in English
| MEDLINE
| ID: mdl-22572109
ABSTRACT
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 Tunisian family after DHPLC analysis and sequencing of the exon 6 of the PAH gene.
Subject(s)
Phenylketonurias/genetics , Sequence Deletion/genetics , Base Sequence , Child, Preschool , Consanguinity , Exons , Humans , Male , Mutation , Phenylalanine Hydroxylase/genetics , Tunisia
2.
Arch Dis Child
; 94(8): 647-8, 2009 Aug.
Article
in English
| MEDLINE
| ID: mdl-19628886