Cargando…
Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
PURPOSE: To map and identify the genetic mutation underlying X-linked congenital nystagmus in a Chinese family. METHODS: Genomic DNA was prepared from peripheral blood, and linkage analysis was performed using short tandem repeat (STR) polymorphism markers. We used Cyrillic software to manage pedigr...
Autores principales: | Zhou, Pingtong, Wang, Zhiqiang, Zhang, Jing, Hu, Landian, Kong, Xiangyin |
---|---|
Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2408774/ https://www.ncbi.nlm.nih.gov/pubmed/18523664 |
Ejemplares similares
-
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus
por: Han, Ruifang, et al.
Publicado: (2015) -
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus
por: Peng, Yuanyuan, et al.
Publicado: (2009) -
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus
por: Hu, Junjie, et al.
Publicado: (2011) -
A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family
por: Liu, Jing, et al.
Publicado: (2016) -
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
por: Fang, Shaohua, et al.
Publicado: (2008)