Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect-论文-万方医学网

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Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect

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第一作者： Thomas, Manal M.

作者： Thomas, Manal M. ^[1] ; Ahmed, Heba Mostafa ^[2] ; El-Dessouky, Sara H. ; Ramadan, Abeer ; Botrous, Osama Ezzat ; Abdel-Hamid, Mohamed S.

作者单位： Natl Res Ctr ^[1] Beni Suef Univ ^[2]

关键词 NPHS2 NPHS1 SRNS FSGS Novel variants Egyptian patients Founder effect RESISTANT NEPHROTIC SYNDROME STEROID-RESISTANT CLINICAL-FEATURES NEPHRIN MUTATIONS GENE-MUTATIONS CHILDHOOD PREVALENCE PODOCIN WT1 COHORT

发布时间 2022-08-23

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Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect

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Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect

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