Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract

BACKGROUND: Congenital cataract is causing one‐third of blindness worldwide. Congenital cataract is heterogeneous in its inheritance patterns. The current study is aimed to explore the unknown genetic causes underlying congenital cataracts. METHODS: Blood samples from affected and normal individuals...

Descripción completa

Detalles Bibliográficos
Autores principales: Saleem, Rani Saira, Siddiqui, Sorath Noorani, Irshad, Saba, Ashraf, Naeem Mahmood, Hamid, Arslan, Khan, Muhammad Azmat Ullah, Khan, Muhammad Imran, Micheal, Shazia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356559/
https://www.ncbi.nlm.nih.gov/pubmed/35638468
http://dx.doi.org/10.1002/mgg3.1985

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9356559/
https://www.ncbi.nlm.nih.gov/pubmed/35638468
http://dx.doi.org/10.1002/mgg3.1985

Ejemplares similares