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

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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Bibliographic Details
Main Authors: Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:The Scientific World Journal
Online Access:http://dx.doi.org/10.1155/2015/309410
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