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

• मुख्य लेखकों: Marketa Safarikova (लेखक), Jitka Stekrova (लेखक), Eva Honsova (लेखक), Vera Horinova (लेखक), Vladimir Tesar (लेखक), Jana Reiterova (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...