When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS)

Mutations in the CDC14A (Cell Division-Cycle 14A) gene, which encodes a conserved dual-specificity protein tyrosine phosphatase, have been identified as a cause of autosomal recessive non-syndromic hearing loss (DFNB32) and hearing impairment infertility male syndrome (HIIMS). We used next-generatio...

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Библиографические подробности
Опубликовано в: :J Hum Genet
Главные авторы: Mohseni, Marzieh, Akbari, Mojdeh, Booth, Kevin T, Babanejad, Mojgan, Azaiez, Hela, Ardalani, Fariba, Arzhangi, Sanaz, Jalalvand, Khadijeh, Nikzat, Nooshin, Ghodratpour, Fatemeh, jamali, payman, Adeli, Omid Ali, Habibi, Haleh, Kahrizi, Kimia, Najmabadi, Hossein
Формат: Artigo
Язык:Inglês
Опубликовано: 2020
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7651993/
https://ncbi.nlm.nih.gov/pubmed/32231217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0740-z
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