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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...

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Detalhes bibliográficos
Main Authors: Timmerman, Vincent, Strickland, Alleene V., Züchner, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3978509/
https://ncbi.nlm.nih.gov/pubmed/24705285
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes5010013
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