Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease

In several individuals with a Charcot–Marie–Tooth (CMT) phenotype, we found a copy number variation (CNV) on chromosome 17p12 in the direct vicinity of the peripheral myelin protein 22 (PMP22) gene. The exact borders and size of this CNV were determined by Southern blot analysis, MLPA, vectorette PC...

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Main Authors: Weterman, Marian AJ, van Ruissen, Fred, de Wissel, Marit, Bordewijk, Lou, Samijn, Johnny PA, van der Pol, W Ludo, Meggouh, Farid, Baas, Frank
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2010
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987248/
https://ncbi.nlm.nih.gov/pubmed/19888301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.186
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