Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification

• मुख्य लेखकों: Xinxin Lu (लेखक), Ren Wang (लेखक), Mingjie Li (लेखक), Biao Zhang (लेखक), Huiying Rao (लेखक), Xiaoli Huang (लेखक), Xijun Chen (लेखक), Yan'an Wu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2024-02-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Mutations in fibrillin-1 (FBN1) are known to be associated with Marfan syndrome (MFS), an autosomal dominant connective tissue disorder. Most FBN1 mutations are missense or nonsense mutations. Traditional molecular genetic testing for the FBN1 gene, like Sanger sequencing, may mi...