Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

The sphingosine-1-phosphate receptors (S1PRs) are a well-studied class of transmembrane G protein-coupled sphingolipid receptors that mediate multiple cellular processes. However, S1PRs have not been previously reported to be involved in the genetic etiology of human traits. S1PR2 lies within the au...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Santos-Cortez, Regie Lyn P., Faridi, Rabia, Rehman, Atteeq U., Lee, Kwanghyuk, Ansar, Muhammad, Wang, Xin, Morell, Robert J., Isaacson, Rivka, Belyantseva, Inna A., Dai, Hang, Acharya, Anushree, Qaiser, Tanveer A., Muhammad, Dost, Ali, Rana Amjad, Shams, Sulaiman, Hassan, Muhammad Jawad, Shahzad, Shaheen, Raza, Syed Irfan, Bashir, Zil-e-Huma, Smith, Joshua D., Nickerson, Deborah A., Bamshad, Michael J., Riazuddin, Sheikh, Ahmad, Wasim, Friedman, Thomas B., Leal, Suzanne M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4746333/
https://ncbi.nlm.nih.gov/pubmed/26805784
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.12.004
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