EXOME SEQUENCING IDENTIFIES A NOVEL TRPV4 MUTATION IN A CMT2C FAMILY
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| Veröffentlicht in: | Neurology 2012-07, Vol.79 (2), p.192-194 |
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| container_end_page | 194 |
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| container_issue | 2 |
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| container_title | Neurology |
| container_volume | 79 |
| creator | LANDOURE, Guida SULLIVAN, Jeremy M TRAYNOR, Bryan J BURNETT, Barrington G SUMNER, Charlotte J JOHNSON, Janel O MUNNS, Clare H YIJUN SHI DIALLO, Oumarou RAPHAEL GIBBS, J GAUDET, Rachelle LUDLOW, Christy L FISCHBECK, Kenneth H |
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| doi_str_mv | 10.1212/WNL.0b013e31825f04b2 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0028-3878 |
| ispartof | Neurology, 2012-07, Vol.79 (2), p.192-194 |
| issn | 0028-3878 1526-632X |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete; Alma/SFX Local Collection |
| subjects | Biological and medical sciences Charcot-Marie-Tooth Disease - genetics Clinical/Scientific Notes Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Exome - genetics Humans Medical sciences Mutation - genetics Neurology Pedigree TRPV Cation Channels - genetics |
| title | EXOME SEQUENCING IDENTIFIES A NOVEL TRPV4 MUTATION IN A CMT2C FAMILY |
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