Haplotype-specific modulation of a SOX10/CREB response element at the Charcot–Marie–Tooth disease type 4C locus SH3TC2

Loss-of-function mutations in the Src homology 3 (SH3) domain and tetratricopeptide repeats 2 (SH3TC2) gene cause autosomal recessive demyelinating Charcot–Marie–Tooth neuropathy. The SH3TC2 protein has been implicated in promyelination signaling through axonal neuregulin-1 and the ERBB2 Schwann cel...

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Main Authors: Brewer, Megan Hwa, Ma, Ki Hwan, Beecham, Gary W., Gopinath, Chetna, Baas, Frank, Choi, Byung-Ok, Reilly, Mary M., Shy, Michael E., Züchner, Stephan, Svaren, John, Antonellis, Anthony, Hodonsky, Chani, Quarles, Richard, Fischbeck, Kurt, Lupski, Jim, Inoue, Ken, Wegner, Michael, Seeman, Pavel
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4168306/
https://ncbi.nlm.nih.gov/pubmed/24833716
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu240
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