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GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus

The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus i...

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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: Han, Ruifang, Wang, Xiaojuan, Wang, Dongjie, Wang, Liming, Yuan, Zhongfang, Ying, Ming, Li, Ningdong
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2015
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4498220/
https://ncbi.nlm.nih.gov/pubmed/26160353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep12031
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