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A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

PURPOSE: The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. METHODS: A common clinical examination and an ophthalmic evaluation were performed on th...

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Main Authors: Hu, Junjie, Liang, Desheng, Xue, Jinjie, Liu, Jing, Wu, Lingqian
Format: Artigo
Jezik:Inglês
Izdano: Molecular Vision 2011
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3060156/
https://ncbi.nlm.nih.gov/pubmed/21423867
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