Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of <Emphasis Type="Italic">CNGA3</Emphasis>期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3

Authors:	Muhammad Arif Nadeem Saqib Bilal Malik Awan Mehwish Sarfraz Muhammad Nasim Khan Sajid Rashid Muhammad Ansar

Affiliation:	(1) Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan;(2) Department of Zoology, University of Azad Jammu and Kashmir, Muzaffarabad, Azad Kashmir, Pakistan;(3) National Center for Bioinformatics, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan;

Abstract:	Background To identify the causative variants of achromatopsia (ACHM) in four Pakistani families presenting autosomal recessive ACHM.

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