Cowchock Syndrome Is Associated with a Mutation in Apoptosis-Inducing Factor

Cowchock syndrome (CMTX4) is a slowly progressive X-linked recessive disorder with axonal neuropathy, deafness, and cognitive impairment. The disease locus was previously mapped to an 11 cM region at chromosome X: q24-q26. Exome sequencing of an affected individual from the originally described fami...

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Hlavní autoři: Rinaldi, Carlo, Grunseich, Christopher, Sevrioukova, Irina F., Schindler, Alice, Horkayne-Szakaly, Iren, Lamperti, Costanza, Landouré, Guida, Kennerson, Marina L., Burnett, Barrington G., Bönnemann, Carsten, Biesecker, Leslie G., Ghezzi, Daniele, Zeviani, Massimo, Fischbeck, Kenneth H.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516602/
https://ncbi.nlm.nih.gov/pubmed/23217327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.008
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