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Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success
Charcot-Marie-Tooth (CMT) neuropathies comprise a group of monogenic disorders affecting the peripheral nervous system. CMT is characterized by a clinically and genetically heterogeneous group of neuropathies, involving all types of Mendelian inheritance patterns. Over 1,000 different mutations have...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978509/ https://www.ncbi.nlm.nih.gov/pubmed/24705285 http://dx.doi.org/10.3390/genes5010013 |