Novel Variant in CEP250 Causes Protein Mislocalization and Leads to Nonsyndromic Autosomal Recessive Type of Progressive Hearing Loss

Genetic hearing loss is the most common hereditary sensorial disorder. Though more than 120 genes associated with deafness have been identified, unveiled causative genes and variants of diverse types of hearing loss remain. Herein, we identified a novel nonsense homozygous variant in CEP250 (c.3511C...

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Detalles Bibliográficos
Autores principales: Kang, Minjin, Kim, Jung Ah, Song, Mee Hyun, Joo, Sun Young, Kim, Se Jin, Jang, Seung Hyun, Lee, Ho, Seong, Je Kyung, Choi, Jae Young, Gee, Heon Yung, Jung, Jinsei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528078/
https://www.ncbi.nlm.nih.gov/pubmed/37759551
http://dx.doi.org/10.3390/cells12182328

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10528078/
https://www.ncbi.nlm.nih.gov/pubmed/37759551
http://dx.doi.org/10.3390/cells12182328

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