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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Detalhes bibliográficos
Main Authors: Prommajan, Korrakot, Ausavarat, Surasawadee, Srichomthong, Chalurmpon, Puangsricharern, Vilavun, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3042362/
https://ncbi.nlm.nih.gov/pubmed/21364962
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