Genetic analysis of a consanguineous Pakistani family with Leber congenital amaurosis identifies a novel mutation in GUCY2D gene

Journal of genetics

Verena Rupp¹  Christian Windpassinger2¹  Muhammad Ayaz Khan²  Muhammad Ansar⁴  Muhammad Pervaiz Khan³  Muzammil Ahmad Khan² 

[1] Institute of Human Genetics, Graz Medical University, Graz 8010, Austria$$;Gomal Centre of Biochemistry and Biotechnology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa 29050, Pakistan$$;Department of Food Science and Technology, Gomal University Dera Ismail Khan, Khyber-Pakhtoonkhwa 29050, Pakistan$$;Faculty of Biological Sciences, Department of Biochemistry, Quaid-i-Azam University, Islamabad 45320, Pakistan$$

关键词: Leber congenital amaurosis;    homozygosity mapping;    LCA1;    mutation screening;    GUCY2D gene.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 授权许可】

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