Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation.
Sönmez
Ferah
F
Division of Pediatric Nephrology, Faculty of Medicine, Adnan Menderes University, Aydin, Turkey. ferahsonmez@yahoo.com
Mir
Sevgi
S
Berdeli
Afig
A
Aydoğdu
Süleyman A
SA
Altincik
Ayça
A
D003241:Consanguinity; D005091:Exons; D005819:Genetic Markers; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010375:Pedigree; D010530:Peritoneal Dialysis; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D014551:Urinary Tract / Q000002:abnormalities*
D005819:Genetic Markers; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein