Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a genetic defect in alpha-L-iduronidase (IDUA) which is involved in the degradation of dermatan and heparan sulfates. The disease has severe and milder phenotypic subtypes. The aim of this study was t...

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Main Authors: Chkioua, Latifa, Khedhiri, Souhir, Kassab, Asma, Bibi, Amina, Ferchichi, Salima, Froissart, Roseline, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2011
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3110106/
https://ncbi.nlm.nih.gov/pubmed/21521498
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-6-39
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