Compound Homozygous Rare Mutations in PLCE1 and HPS1 Genes Associated with Autosomal Recessive Retinitis Pigmentosa in Pakistani Families.

Masroor Ellahi Babar,Akhtar Ali,Syed Hassan Abbas,Mirza Jawad Ul Hasnain, Nida Babar, Hira Babar,Tanveer Hussain,Asif Nadeem, Namra Ayub, Sundus Shahid,Muhammad Tariq Pervez

Iranian journal of public health（2022）

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摘要

Compound effect of mutations in rarely linked and genes could also cause RP. This study highlights the potential application of WES for a rapid and precise molecular diagnosis for heterogeneous genetic diseases such as RP.

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关键词

Pakistan,Retinitis pigmentosa,Whole-exome sequencing

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