title: Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.
authors.affiliation: Medical Genetics, Athens University, "Aghia Sofia" Children's Hospital, Thivon and Levadeias, Ampelokipoi 11527, Athens, Greece. efylaktou@med.uoa.gr.
authors.forename: Irene
authors.initials: I
authors.lastname: Fylaktou
authors.forename: Spyridon
authors.initials: S
authors.lastname: Megremis
authors.forename: Andromachi
authors.initials: A
authors.lastname: Mitsioni
authors.forename: Sofia
authors.initials: S
authors.lastname: Kitsiou-Tzeli
authors.forename: Konstantina
authors.initials: K
authors.lastname: Kosma
authors.forename: Maria
authors.initials: M
authors.lastname: Bitsori
authors.forename: Constantinos J
authors.initials: CJ
authors.lastname: Stefanidis
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Joanne
authors.initials: J
authors.lastname: Traeger Synodinos
mesh_terms: D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006115:Greece; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009404:Nephrotic Syndrome / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D017354:Point Mutation
chemical_list: D008565:Membrane Proteins; C113267:nephrin