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Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia

Choroideremia is a complex form of blindness-causing retinal degeneration. The aim of the present study was to investigate the pathogenic variant and molecular etiology associated with choroideremia in a Chinese family. All available family members underwent detailed ophthalmological examinations. W...

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Detalles Bibliográficos
Autores principales:	Dan, Handong, Li, Tuo, Lei, Xinlan, Huang, Xin, Xing, Yiqiao, Shen, Yin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Portland Press Ltd. 2020
Materias:	Genomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218218/ https://www.ncbi.nlm.nih.gov/pubmed/32364220 http://dx.doi.org/10.1042/BSR20200067

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