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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.
Woodward KJ, Cundall M, Sperle K, Sistermans EA, Ross M, Howell G, Gribble SM, Burford DC, Carter NP, Hobson DL, Garbern JY, Kamholz J, Heng H, Hodes ME, Malcolm S, Hobson GM. Woodward KJ, et al. Among authors: garbern jy. Am J Hum Genet. 2005 Dec;77(6):966-87. doi: 10.1086/498048. Epub 2005 Oct 19. Am J Hum Genet. 2005. PMID: 16380909 Free PMC article.
Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Beck CR, Carvalho CM, Banser L, Gambin T, Stubbolo D, Yuan B, Sperle K, McCahan SM, Henneke M, Seeman P, Garbern JY, Hobson GM, Lupski JR. Beck CR, et al. Among authors: garbern jy. PLoS Genet. 2015 Mar 6;11(3):e1005050. doi: 10.1371/journal.pgen.1005050. eCollection 2015 Mar. PLoS Genet. 2015. PMID: 25749076 Free PMC article.
88 results