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

• Main Authors: Marketa Safarikova (Author), Jitka Stekrova (Author), Eva Honsova (Author), Vera Horinova (Author), Vladimir Tesar (Author), Jana Reiterova (Author)
• Format: Book
• Published: BMC, 2018-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...