Carregant...

A novel beaded filament structural protein 1 (BFSP1) gene mutation associated with autosomal dominant congenital cataract in a Chinese family

PURPOSE: To identify the disease-causing mutation in a five-generation Chinese family affected with bilateral congenital nuclear cataract. METHODS: Linkage analysis was performed for the known candidate genes and whole-exome sequencing was used in two affected family members to screen for potential...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Wang, Han, Zhang, Tianxiao, Wu, Di, Zhang, Jinsong
Format: Artigo
Idioma:Inglês
Publicat: Molecular Vision 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3874047/
https://ncbi.nlm.nih.gov/pubmed/24379646
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!