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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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| Gepubliceerd in: | Diagn Pathol |
|---|---|
| Hoofdauteurs: | , , , , , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
BioMed Central
2016
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| Onderwerpen: | |
| Online toegang: | 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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