Article
Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation.
Diagnostic pathology - 17 Jun 2016
Chkioua Latifa, Khedhiri Souhir, Hafsi Hind, Grissa Oussama, Ben Turkia Hadhami, Miled Abdelhedi, Laradi Sandrine, Froissart Roseline, Alif Najat
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive disease caused by the deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The purpose of this study was to analyze the GALNS mutations and the haplotypes associated. METHODS: Mutation screening of the GALNS gene was performed by direct sequence analysis using DNA samples from 15 unrelated Tunisian MPS...
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