A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family

• Auteurs principaux: Bingxin Zhou (Auteur), Lili Yu (Auteur), Yan Wang (Auteur), Wenjing Shang (Auteur), Yi Xie (Auteur), Xiong Wang (Auteur), Fengchan Han (Auteur)
• Format: Livre
• Publié: BMC, 2020-06-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background The autosomal recessive non-syndromic deafness DFNB28 is characterized by prelingual sensorineural hearing loss. The disease is related with mutations in TRIOBP (Trio- and F-actin-Binding Protein) gene, which has three transcripts referred to as TRIOBP-5, TRIOBP − 4 and TRIOBP-1....