Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2011.01716.x/fullpdf
Reference30 articles.
1. Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.;Inoue;Ann Neurol,1999
2. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.;Inoue;Neurogenetics,2005
3. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis.;Garbern;Cell Mol Life Sci,2007
4. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.;Inoue;Am J Hum Genet,2002
5. Complete deletion of the proteolipid protein gene (PLP) in a family with X-linked Pelizaeus-Merzbacher disease.;Raskind;Am J Hum Genet,1991
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