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Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies

BACKGROUND: Current genetic test algorithms for Charcot Marie Tooth (CMT) disease are based on family details and comprehensive clinical and neurophysiological data gathered under ideal conditions for clinical assessment. However, in a diagnostic laboratory setting relying on external test requisiti...

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Detalles Bibliográficos
Autores principales:	Østern, Rune, Fagerheim, Toril, Hjellnes, Helene, Nygård, Bjørn, Mellgren, Svein I, Nilssen, Øivind
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2013
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3849068/ https://www.ncbi.nlm.nih.gov/pubmed/24053775 http://dx.doi.org/10.1186/1471-2350-14-94

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