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A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract

Background/Purpose: To identify the underlying genetic cause of a Taiwanese family with autosomal dominant cerulean cataract. Methods: A three-generation cerulean cataract family with 13 affected and 13 normal was identified. Whole exome sequencing, whole genome single nucleotide polymorphism genoty...

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Bibliografiske detaljer
Principais autores: Yung-Hao Ching, Jih-I. Yeh, Wen-Lang Fan, Ko-Chen Chen, Man-Chieh Yeh, Peng Yeong Woon, Yuan-Chieh Lee
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019-01-01
Serier:Journal of the Formosan Medical Association
Online adgang:http://www.sciencedirect.com/science/article/pii/S092966461730685X
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