Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2

Peter J. Gianakopoulos, Yuzhi Zhang, Nela Pencea, Marija Orlic-Milacic, Kirti Mittal, Christian Windpassinger, Sara Jane White, Peter M. Kroisel, Eva W C Chow, Carol J. Saunders, Berge A. Minassian, John B. Vincent

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Medicine & Life Sciences