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

• Hoofdauteurs: Marketa Safarikova (Auteur), Jitka Stekrova (Auteur), Eva Honsova (Auteur), Vera Horinova (Auteur), Vladimir Tesar (Auteur), Jana Reiterova (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...