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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Bibliografiska uppgifter
Huvudupphovsmän: Weterman, Marian AJ, van Ruissen, Fred, de Wissel, Marit, Bordewijk, Lou, Samijn, Johnny PA, van der Pol, W Ludo, Meggouh, Farid, Baas, Frank
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group 2010
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Article
Länkar: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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