Ramifications of POU4F3 variants associated with autosomal dominant hearing loss in various molecular aspects

POU4F3, a member of the POU family of transcription factors, commonly causes autosomal dominant deafness. Exome sequencing was used to identify four novel variants in POU4F3 (NM_002700.2), including c.564dupA: p.Ala189SerfsTer26, c.743T > C:p.Leu248Pro, c.879C > A:p.Phe293Leu, and c.952G > ...

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Detalles Bibliográficos
Autores principales: Lee, Sang-Yeon, Kim, Min Young, Han, Jin Hee, Park, Sang Soo, Yun, Yejin, Jee, Seung-Cheol, Han, Jae Joon, Lee, Jun Ho, Seok, Heeyoung, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400627/
https://www.ncbi.nlm.nih.gov/pubmed/37537203
http://dx.doi.org/10.1038/s41598-023-38272-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10400627/
https://www.ncbi.nlm.nih.gov/pubmed/37537203
http://dx.doi.org/10.1038/s41598-023-38272-w

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