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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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: 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.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
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Online Zugang: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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