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

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. Among t...

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Detalles Bibliográficos
Autores principales: Zhou, Bingxin, Yu, Lili, Wang, Yan, Shang, Wenjing, Xie, Yi, Wang, Xiong, Han, Fengchan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268695/
https://www.ncbi.nlm.nih.gov/pubmed/32487028
http://dx.doi.org/10.1186/s12881-020-01055-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268695/
https://www.ncbi.nlm.nih.gov/pubmed/32487028
http://dx.doi.org/10.1186/s12881-020-01055-5

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