Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

Mucopolysaccharidosis type I (MPS I) arises from a deficiency in the α-L-iduronidase (IDUA) enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Sun, Luning, Li, Chunyi, Song, Xiaoyu, Zheng, Ningning, Zhang, Haipeng, Dong, Guizhang
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Sociedade Brasileira de Genética 2011
Gaiak:
Short Communication
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115308/
https://ncbi.nlm.nih.gov/pubmed/21734815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/S1415-47572011005000006
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