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

Internet

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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