Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population

Purpose: To screen RPE65 in 187 families with Leber congenital amaurosis (LCA). Methods: Sanger sequencing and/or targeted exome sequencing was employed to identify mutations in the RPE65 gene, and intrafamilial cosegregation analysis if DNA was available. In silico analyses and splicing assay we...

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Prif Awduron:	Zilin Zhong, Feng Rong, Yinghui Dai, Alakezi Yibulayin, Lin Zeng, Jian Liao, Liefeng Wang, Zhihua Huang, Zhenping Zhou, Jianjun Chen
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Molecular Vision 2019-03-01
Cyfres:	Molecular Vision
Pynciau:	RPE65 Leber congenital amaurosis
Mynediad Ar-lein:	http://www.molvis.org/molvis/v25/204/
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