Raja Rayan, DL;
Haworth, A;
Sud, R;
Matthews, E;
Fialho, D;
Burge, J;
Portaro, S;
Schorge, S;
Tuin, K;
Lunt, P;
et al.
Raja Rayan, DL; Haworth, A; Sud, R; Matthews, E; Fialho, D; Burge, J; Portaro, S; Schorge, S; Tuin, K; Lunt, P; McEntagart, M; Toscano, A; Davis, MB; Hanna, MG
(2012)
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
Neurology, 78 (24).
1953 - 1958.
https://doi.org/10.1212/WNL.0b013e318259e19c
SGUL Authors: McEntagart, Meriel
Abstract
To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC).
| Item Type: | Article | ||||
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| Additional Information: | PMCID: PMC3369509 | ||||
| Keywords: | Adolescent, Adult, Base Sequence, Chloride Channels, DNA Copy Number Variations, Exons, Female, Genetic Testing, Genotype, Humans, Male, Myotonia Congenita, Sequence Deletion | ||||
| SGUL Research Institute / Research Centre: | Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS) |
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| Journal or Publication Title: | Neurology | ||||
| Dates: |
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| PubMed ID: | 22649220 | ||||
| Web of Science ID: | 22649220 | ||||
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| URI: | http://sgultest.da.ulcc.ac.uk/id/eprint/101650 | ||||
| Publisher's version: | https://doi.org/10.1212/WNL.0b013e318259e19c |
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