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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Detalles Bibliográficos
Autores principales: Micheal, Shazia, Niewold, Ilse Therésia Gabriëla, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Khan, Muhammad Imran, Bergen, Arthur A. B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852608/
https://www.ncbi.nlm.nih.gov/pubmed/29461512
http://dx.doi.org/10.3390/genes9020112

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5852608/
https://www.ncbi.nlm.nih.gov/pubmed/29461512
http://dx.doi.org/10.3390/genes9020112

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