First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal-membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease...

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Publicat a:ScientificWorldJournal
Autors principals: Yang, Yong-jia, Hu, Yuan, Zhao, Rui, He, Xinyu, Zhao, Liu, Tu, Ming, Zhou, Lijun, Guo, Jihong, Wu, Linqian, Zhao, Tantai, Zhu, Yi-min
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4381850/
https://ncbi.nlm.nih.gov/pubmed/25866837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/309410
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