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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Main Authors: Chkioua, Latifa, Khedhiri, Souhir, Kassab, Asma, Bibi, Amina, Ferchichi, Salima, Froissart, Roseline, Vianey-Saban, Christine, Laradi, Sandrine, Miled, Abdelhedi
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2011
Assuntos:
Research
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares