Cargando…

A Novel CRYBB2 Silent Variant in Autosomal Dominant Congenital Cataracts (ADCC) in Pakistani families

OBJECTIVE: Congenital Cataract is a type of ophthalmic genetic disorder that appears at birth or in early childhood. Among 30 genes, CRYBB2 is one of the most common and a water-soluble protein of lens’s that code for the βB2-crystallin. This study aimed to investigate the novel silent mutation in C...

Descripción completa

Detalles Bibliográficos
Autores principales: Hussain, Maryam, Muhammad, Khushi, Khan, Muhammad, Din, Aziz Ud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10480720/
https://www.ncbi.nlm.nih.gov/pubmed/37680813
http://dx.doi.org/10.12669/pjms.39.5.7061