Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families

Delineation of Novel Autosomal Recessive Mutation in GJA3 and Autosomal Dominant Mutations in GJA8 in Pakistani Congenital Cataract Families

Congenital cataract is a clinically and genetically heterogeneous disease. The present study was undertaken to find the genetic cause of congenital cataract families. DNA samples of a large consanguineous Pakistani family were genotyped with a high resolution single nucleotide polymorphism Illumina...

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Bibliographic Details
Main Authors: Shazia Micheal, Ilse Therésia Gabriëla Niewold, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Muhammad Imran Khan, Arthur A. B. Bergen
Format: Article
Language:English
Published: MDPI AG 2018-02-01
Series:Genes
Subjects:
congenital cataract
homozygosity mapping
sanger sequencing
proband
GJA3 gene
GJA8
mutation
segregation
Online Access:http://www.mdpi.com/2073-4425/9/2/112

Internet

http://www.mdpi.com/2073-4425/9/2/112

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