Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype

Journal of genetics

Andromachi Mitsioni²  Maria Bitsori³  Constantinos J. Stefanidis²  Konstantina Kosma¹  Irene Fylaktou1¹  Emmanuel Kanavakis¹  Joanne Traeger Synodinos¹  Spyridon Megremis¹  Sofia Kitsiou-Tzeli¹ 

[1] Medical Genetics, Athens University, “Aghia Sofia” Children’s Hospital, Thivon and Levadeias, Ampelokipoi 11527, Athens, Greece$$;Departement of Pediatric Nephrology, “P. and A. Kyriakou” Children’s Hospital, Thivon and Levadeias, Ampelokipoi 11527, Athens, Greece$$;Department of Paediatrics, University Hospital of Heraklion, P.O. Box 1352 Heraklion 71110, Greece$$

关键词: congenital nephrotic syndrome;    genetic disease;    kidney;    nephrin;    nephrotic syndrome;    NPHS1.;   

DOI  :  

学科分类：生物科学（综合）

来源: Indian Academy of Sciences

【 授权许可】

Unknown