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

• Egile Nagusiak: Xinxin Lu (Egilea), Ren Wang (Egilea), Mingjie Li (Egilea), Biao Zhang (Egilea), Huiying Rao (Egilea), Xiaoli Huang (Egilea), Xijun Chen (Egilea), Yan'an Wu (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2024-02-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...