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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...

詳細記述

保存先:
書誌詳細
出版年:Genes (Basel)
主要な著者: Micheal, Shazia, Niewold, Ilse Therésia Gabriëla, Siddiqui, Sorath Noorani, Zafar, Saemah Nuzhat, Khan, Muhammad Imran, Bergen, Arthur A. B.
フォーマット: Artigo
言語:Inglês
出版事項: MDPI 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5852608/
https://ncbi.nlm.nih.gov/pubmed/29461512
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes9020112
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