A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I

PURPOSE: To characterize the pathogenic mutations causing mucopolysaccharidosis type I (MPS I) in two Thai patients: one with Hurler syndrome (MPS IH), the most severe form, and the other with Scheie syndrome (MPS IS), the mildest. Both presented with distinctive phenotype including corneal clouding...

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Detalles Bibliográficos
Autores principales: Prommajan, Korrakot, Ausavarat, Surasawadee, Srichomthong, Chalurmpon, Puangsricharern, Vilavun, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042362/
https://www.ncbi.nlm.nih.gov/pubmed/21364962

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3042362/
https://www.ncbi.nlm.nih.gov/pubmed/21364962

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