MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss

While recent studies have revealed a substantial portion of the genes underlying human hearing loss, the extensive genetic landscape has not been completely explored. Here we report a loss of function variant (c.72delA) in MPZL2 in three unrelated multiplex families from Turkey and Iran with autosom...

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Vydáno v:Hum Genet
Hlavní autoři: Bademci, Guney, Abad, Clemer, Incesulu, Armagan, Rad, Abolfazl, Alper, Ozgul, Kolb, Susanne M., Cengiz, Filiz B., Diaz-Horta, Oscar, Silan, Fatma, Mihci, Ercan, Ocak, Emre, Najafi, Maryam, Maroofian, Reza, Yilmaz, Elanur, Nur, Banu G., Duman, Duygu, Guo, Shengru, Sant, David W., Wang, Gaofeng, Monje, Paula V., Haaf, Thomas, Blanton, Susan H., Vona, Barbara, Walz, Katherina, Tekin, Mustafa
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6478175/
https://ncbi.nlm.nih.gov/pubmed/29982980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-018-1901-4
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