Molecular analysis in a GALNS study cohort of 15 Tunisian patients: description of a novel mutation

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 scr...

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Publicado no:Diagn Pathol
Main Authors: Chkioua, Latifa, Khedhiri, Souhir, Hafsi, Hind, Grissa, Oussama, Ben Turkia, Hadhami, Miled, Abdelhedi, Laradi, Sandrine, Froissart, Roseline, Alif, Najat
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4912732/
https://ncbi.nlm.nih.gov/pubmed/27317439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13000-016-0498-y
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