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1篇 您的检索式：作者名="Emma LBaple"

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		题名	作者	年代	出处	被引量
	1	Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families显示文摘AIM:To investigate the genetic basis of autosomal recessive retinitis pigmentosa(arRP)in two consanguineous/endogamous Pakistani families.METHODS:Whole exome sequencing(WES)was performed on genomic DNA samples of patients with arRP to identify disease causing mutations.Sanger sequencing was performed to confirm familial segregation of identified mutations,and potential pathogenicity was determined by predictions of the mutations’functions.RESULTS:A novel homozygous frameshift mutation[NM_000440.2:c.1054delG,p.(Gln352Argfs4);Chr5:g.149286886del(GRCh37)]in the PDE6A gene in an endogamous family and a novel homozygous splice site mutation[NM_033100.3:c.1168-1G>A,Chr10:g.85968484G>A(GRCh37)]in the CDHR1 gene in a consanguineous family were identified.The PDE6A variant p.(Gln352Argfs4)was predicted to be deleterious or pathogenic,whilst the CDHR1 variant c.1168-1G>A was predicted to result in potential alteration of splicing.CONCLUSION:This study expands the spectrum of genetic variants for arRP in Pakistani families.	Muhammad Dawood Siying Lin Taj Ud Din Irfan Ullah Shah Niamat Khan Abid Jan Muhammad Marwan Komal Sultan Maha Nowshid Raheel Tahir Asif Naveed Ahmed Muhammad Yasin Emma LBaple Andrew HCrosby Shamim Saleha	2021	International Journal of Ophthalmology(English edition)2021，14，12：	0

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