Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic

• Autori principali: Marketa Safarikova (Autore), Jitka Stekrova (Autore), Eva Honsova (Autore), Vera Horinova (Autore), Vladimir Tesar (Autore), Jana Reiterova (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2018-08-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background Mutations in INF2 are frequently responsible for focal segmental glomerulosclerosis (FSGS), which is a common cause of end stage renal disease (ESRD); additionally, they are also connected with Charcot-Marie-Tooth neuropathy. INF2 encodes for inverted formin 2. This protein parti...