Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a rare autosomal storage disorder resulting from the defective alpha‐L‐iduronidase (encoded by IDUA) enzyme activity and accumulation of glycosaminoglycans (GAGs) in lysosomes. So far, more than 100 IDUA causative mutations have been identified lea...

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Detalles Bibliográficos
Autores principales: Zhou, Yong‐An, Li, Ping, Zhang, Yanping, Xiong, Qiuhong, Li, Chao, Zhao, Zhonghua, Wang, Yuxian, Xiao, Han
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978265/
https://www.ncbi.nlm.nih.gov/pubmed/31758674
http://dx.doi.org/10.1002/mgg3.1058

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978265/
https://www.ncbi.nlm.nih.gov/pubmed/31758674
http://dx.doi.org/10.1002/mgg3.1058

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