Tag: Autosomal recessive inheritance

Identification of novel compound heterozygous mutations of USH2A gene in a RP pedigree by targeted-capture next generation sequencing

Authors: Wang Ying,  Huang Hui,  Fan Ning,  Wu Jing,  Zhou Xiaomin,  Yin Yan,  Wang Yun,  Liu Xuyang DOI: 10.3760/cma.j.issn.2095-0160.2016.03.011 Published 2016-03-10 Cite as Chin J Exp Ophthalmol, 2016,34(3): 244-247. Abstract                              [Download PDF] [Read Full Text] Background RP is the term given to a set of hereditary retinal diseases.RP has […]