Cargando…
Novel mutations of RPGR in Chinese families with X-linked retinitis pigmentosa
BACKGROUND: RP (retinitis pigmentosa) is a group of hereditary retinal degenerative diseases. XLRP is a relatively severe subtype of RP. Thus, it is necessary to identify genes and mutations in patients who present with X-linked retinitis pigmentosa. METHODS: Genomic DNA was extracted from periphera...
Autores principales: | Zhang, Zhimeng, Dai, Hehua, Wang, Lei, Tao, Tianchang, Xu, Jing, Sun, Xiaowei, Yang, Liping, Li, Genlin |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882249/ https://www.ncbi.nlm.nih.gov/pubmed/31775781 http://dx.doi.org/10.1186/s12886-019-1250-7 |
Ejemplares similares
-
Novel Mutations of RPGR in Chinese Retinitis Pigmentosa Patients and the Genotype-Phenotype Correlation
por: Yang, Liping, et al.
Publicado: (2014) -
Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa
por: Jiang, Jingjing, et al.
Publicado: (2017) -
Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa
por: Wang, Jing, et al.
Publicado: (2018) -
Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations
por: Di Iorio, Valentina, et al.
Publicado: (2020) -
Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy
por: Liu, Xiaozhen, et al.
Publicado: (2022)