1.
Pathol Biol (Paris)
; 60(6): e87-9, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22572109
RESUMO
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.
Assuntos
Fenilcetonúrias/genética , Deleção de Sequência/genética , Sequência de Bases , Pré-Escolar , Consanguinidade , Éxons , Humanos , Masculino , Mutação , Fenilalanina Hidroxilase/genética , Tunísia
2.
Arch Dis Child
; 94(8): 647-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19628886