Ontology highlight
ABSTRACT:
SUBMITTER: Kovacs G
PROVIDER: S-EPMC4775026 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Kovács Gábor G Kalmár Tibor T Endreffy Emőke E Ondrik Zoltán Z Iványi Béla B Rikker Csaba C Haszon Ibolya I Túri Sándor S Sinkó Mária M Bereczki Csaba C Maróti Zoltán Z
PloS one 20160302 3
Alport syndrome (AS) is an inherited type IV collagen nephropathies characterized by microscopic hematuria during early childhood, the development of proteinuria and progression to end-stage renal disease. Since choosing the right therapy, even before the onset of proteinuria, can delay the onset of end-stage renal failure and improve life expectancy, the earliest possible differential diagnosis is desired. Practically, this means the identification of mutation(s) in COL4A3-A4-A5 genes. We used ...[more]