Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Int J Mol Sci
Autori principali: Inaba, Akira, Maeda, Akiko, Yoshida, Akiko, Kawai, Kanako, Hirami, Yasuhiko, Kurimoto, Yasuo, Kosugi, Shinji, Takahashi, Masayo
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2020
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7659936/
https://ncbi.nlm.nih.gov/pubmed/33105608
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21217817
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !