The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

BACKGROUND: Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to autosom...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMC Med Genet
Main Authors: Hofrichter, Michaela A. H., Mojarad, Majid, Doll, Julia, Grimm, Clemens, Eslahi, Atiye, Hosseini, Neda Sadat, Rajati, Mohsen, Müller, Tobias, Dittrich, Marcus, Maroofian, Reza, Haaf, Thomas, Vona, Barbara
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2018
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5960148/
https://ncbi.nlm.nih.gov/pubmed/29776397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0598-5
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