PSIP1/LEDGF: a new gene likely involved in sensorineural progressive hearing loss

Hereditary Hearing Loss (HHL) is an extremely heterogeneous disorder. Approximately 30 out of 80 known HHL genes are associated with autosomal dominant forms. Here, we identified PSIP1/LEDGF (isoform p75) as a novel strong candidate gene involved in dominant HHL. Using exome sequencing we found a fr...

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Vydáno v:Sci Rep
Hlavní autoři: Girotto, Giorgia, Scheffer, Déborah I., Morgan, Anna, Vozzi, Diego, Rubinato, Elisa, Di Stazio, Mariateresa, Muzzi, Enrico, Pensiero, Stefano, Giersch, Anne B., Corey, David P., Gasparini, Paolo
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4686969/
https://ncbi.nlm.nih.gov/pubmed/26689366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep18568
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