Whole exome sequencing establishes diagnosis of Charcot–Marie–Tooth 4J, 1C, and X1 subtypes
Abstract Background Charcot–Marie–Tooth (CMT) hereditary polyneuropathies pose a diagnostic challenge. Our aim here is to describe CMT patients diagnosed by whole exome sequencing (WES) following years of fruitless testing. Methods/Results Three patients with polyneuropathy suspected to be genetic i...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
Wiley
2020-04-01
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| Sraith: | Molecular Genetics & Genomic Medicine |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1002/mgg3.1141 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
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