2009•European Journal of Human GeneticsOpen access

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

Marian A. J. Weterman, Fred van Ruissen, Marit de Wissel, Lou Bordewijk, Johnny P.A. Samijn, W. Ludo van der Pol, Farid Meggouh, Frank Baas

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Key concepts: Gene duplication, Copy-number variation, Peripheral myelin protein 22, Biology, Genetics, Multiplex ligation-dependent probe amplification, Gene dosage, Southern blot

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Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease — Research Paper | ScholarLens