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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： Manal M,Thomas

第一单位： Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 33rd El Bohouth st, former El Tahrir st, Dokki, Cairo, 12311, Egypt. nula_m@hotmail.com.

作者： Manal M,Thomas ^[1] ; Heba Mostafa,Ahmed ^[2] ; Sara H,El-Dessouky ^[3] ; Abeer,Ramadan ^[4] ; Osama Ezzat,Botrous ^[2] ; Mohamed S,Abdel-Hamid ^[5]

作者单位： Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 33rd El Bohouth st, former El Tahrir st, Dokki, Cairo, 12311, Egypt. nula_m@hotmail.com. ^[1] Department of Pediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt. ^[2] Prenatal Diagnosis and Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ^[3] Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt. ^[4] Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 33rd El Bohouth st, former El Tahrir st, Dokki, Cairo, 12311, Egypt. mohamadnrc@hotmail.com. ^[5]

关键词 Egyptian patients FSGS Founder effect NPHS1 NPHS2 Novel variants SRNS