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Year | Number of Results |
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1998 | 1 |
2001 | 1 |
2007 | 1 |
2013 | 1 |
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Page 1
ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
Hum Mol Genet. 1998 Oct;7(11):1753-60. doi: 10.1093/hmg/7.11.1753.
Hum Mol Genet. 1998.
PMID: 9736777
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M.
Sun C, et al.
Eur J Hum Genet. 2001 Dec;9(12):903-9. doi: 10.1038/sj.ejhg.5200736.
Eur J Hum Genet. 2001.
PMID: 11840191
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Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.
Fialho D, Schorge S, Pucovska U, Davies NP, Labrum R, Haworth A, Stanley E, Sud R, Wakeling W, Davis MB, Kullmann DM, Hanna MG.
Fialho D, et al.
Brain. 2007 Dec;130(Pt 12):3265-74. doi: 10.1093/brain/awm248. Epub 2007 Oct 11.
Brain. 2007.
PMID: 17932099
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Prevalence study of genetically defined skeletal muscle channelopathies in England.
Horga A, Raja Rayan DL, Matthews E, Sud R, Fialho D, Durran SC, Burge JA, Portaro S, Davis MB, Haworth A, Hanna MG.
Horga A, et al.
Neurology. 2013 Apr 16;80(16):1472-5. doi: 10.1212/WNL.0b013e31828cf8d0. Epub 2013 Mar 20.
Neurology. 2013.
PMID: 23516313
Free PMC article.
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