Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract

Identification of a De Novo 3bp Deletion in CRYBA1/A3 Gene in Autosomal Dominant Congenital Cataract

Autosomal dominant congenital cataract (ADCC) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. Heterozygous null mutations in the crystallin genes are the major cause of the ADCC. This study aims to detect the mutational spectrum of four crystallin...

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Bibliographic Details
Main Authors: Masoumeh Mohebi, Abolfazl Akbari, Nahid Babaei, Abdolrahim Sadeghi, Mansour Heidari
Format: Article
Language:English
Published: Tehran University of Medical Sciences 2017-01-01
Series:Acta Medica Iranica
Subjects:
Cataract
CRYBA1/3
Directsequencing
Frameshift mutation
Truncated protein
Online Access:https://acta.tums.ac.ir/index.php/acta/article/view/5694

Internet

https://acta.tums.ac.ir/index.php/acta/article/view/5694

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