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Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Cyclic AMP (cAMP) production, which is important for mechanotransduction within the inner ear, is catalyzed by adenylate cyclases (AC). However, knowledge of the role of ACs in hearing is limited. Previously, a novel autosomal recessive non-syndromic hearing impairment locus DFNB44 was mapped to chr...

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Detaylı Bibliyografya
Asıl Yazarlar: Santos-Cortez, Regie Lyn P., Lee, Kwanghyuk, Giese, Arnaud P., Ansar, Muhammad, Amin-Ud-Din, Muhammad, Rehn, Kira, Wang, Xin, Aziz, Abdul, Chiu, Ilene, Hussain Ali, Raja, Smith, Joshua D., Shendure, Jay, Bamshad, Michael, Nickerson, Deborah A., Ahmed, Zubair M., Ahmad, Wasim, Riazuddin, Saima, Leal, Suzanne M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2014
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4030782/
https://ncbi.nlm.nih.gov/pubmed/24482543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu042
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