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Genome Medicine|December 11, 2019
Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variantsVahid Bahrambeigi, Xiaofei Song, Karen Sperle, et al.Plos Genetics|March 10, 2015
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplicationChristine R Beck, Claudia M B Carvalho, Linda Banser, et al.American Journal of Human Genetics|December 29, 2005
Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombinationKaren J Woodward, Maria Cundall, Karen Sperle, et al.Annals of Clinical and Translational Neurology|July 1, 2015
Altered PLP1 splicing causes hypomyelination of early myelinating structuresSietske H Kevelam, Jennifer R Taube, Rosalina M L van Spaendonk, et al.Pageof 2