Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked by the markers DXS7108 and DXS7110. This interval overlaps with the previously described DFNX4 locus and contains 75 annotated genes. Subseque...

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Main Authors: Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2011
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3146715/
https://ncbi.nlm.nih.gov/pubmed/21549342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.04.012
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