Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

BACKGROUND: The identification of disease causing, or putative disease causing, mutations in index patients with Charcot-Marie-Tooth disease (CMT) allows for genetic testing of family members. Relevant variants identified in index patients are of either definite, likely or uncertain pathogenicity. T...

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Detalles Bibliográficos
Autores principales: Østern, Rune, Fagerheim, Toril, Hjellnes, Helene, Nygård, Bjørn, Mellgren, Svein Ivar, Nilssen, Øivind
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900263/
https://www.ncbi.nlm.nih.gov/pubmed/24444136
http://dx.doi.org/10.1186/1471-2350-15-12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900263/
https://www.ncbi.nlm.nih.gov/pubmed/24444136
http://dx.doi.org/10.1186/1471-2350-15-12

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