A novel deletion mutation in KMT2A identified in a child with ID/DD and blood eosinophilia

• मुख्य लेखकों: Haixia Zhang (लेखक), Bingwu Xiang (लेखक), Hui Chen (लेखक), Xiang Chen (लेखक), Tao Cai (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2019-03-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background The KMT2A gene encoded lysine methyltransferase plays an essential role in regulating gene expression during early development and hematopoiesis. To date, 92 different mutations of KMT2A have been curated in the human gene mutation database (HGMD), resulting in Wiedemann-Steiner...