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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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2002
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC378540/
https://ncbi.nlm.nih.gov/pubmed/12297985
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