Genomic Rearrangements Resulting in PLP1 Deletion Occur by Nonhomologous End Joining and Cause Different Dysmyelinating Phenotypes in Males and Females

In the majority of patients with Pelizaeus-Merzbacher disease, duplication of the proteolipid protein gene PLP1 is responsible, whereas deletion of PLP1 is infrequent. Genomic mechanisms for these submicroscopic chromosomal rearrangements remain unknown. We identified three families with PLP1 deleti...

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Publicat a:	Am J Hum Genet
Autors principals:	Inoue, Ken, Osaka, Hitoshi, Thurston, Virginia C., Clarke, Joe T. R., Yoneyama, Akira, Rosenbarker, Lisa, Bird, Thomas D., Hodes, M. E., Shaffer, Lisa G., Lupski, James R.
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2002
Matèries:	Articles
Accés en línia:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC378540/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12297985/ https://ncbi.nlm.nih.govhttps://doi.org/10.1086/342728
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