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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2011
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Online toegang: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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