Truncating Variants Contribute to Hearing Loss and Severe Retinopathy in USH2A-Associated Retinitis Pigmentosa in Japanese Patients

USH2A is a common causal gene of retinitis pigmentosa (RP), a progressive blinding disease due to retinal degeneration. Genetic alterations in USH2A can lead to two types of RP, non-syndromic and syndromic RP, which is called Usher syndrome, with impairments of vision and hearing. The complexity of...

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Detalles Bibliográficos
Autores principales: Inaba, Akira, Maeda, Akiko, Yoshida, Akiko, Kawai, Kanako, Hirami, Yasuhiko, Kurimoto, Yasuo, Kosugi, Shinji, Takahashi, Masayo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659936/
https://www.ncbi.nlm.nih.gov/pubmed/33105608
http://dx.doi.org/10.3390/ijms21217817

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7659936/
https://www.ncbi.nlm.nih.gov/pubmed/33105608
http://dx.doi.org/10.3390/ijms21217817

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