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Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous group of diseases with approximately 45 different causative genes described. The aims of this study were to determine the frequency of different genes in a large cohort of patients with CMT and devise guideli...
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Main Authors: | , , , , , , , , , , , , , , , , |
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格式: | Artigo |
語言: | Inglês |
出版: |
2012
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主題: | |
在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3736805/ https://ncbi.nlm.nih.gov/pubmed/22577229 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp-2012-302451 |
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