Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

BACKGROUND: Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by a deficiency of α‐l‐iduronidase (IDUA) encoded by the IDUA gene. We examined the mutation spectrum of the IDUA gene to explain the clinical, biochemical, and molecular features in 21 Iranian patients wit...

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Detalles Bibliográficos
Autores principales: Taghikhani, Mohammad, Khatami, Shohreh, Abdi, Mohammad, Hakhamaneshi, Mohammad Said, Alaei, Mohammad Reza, Zamanfar, Daniel, Vakili, Rahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6805319/
https://www.ncbi.nlm.nih.gov/pubmed/31386236
http://dx.doi.org/10.1002/jcla.22963

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