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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Εκδόθηκε σε:	Am J Hum Genet
Κύριοι συγγραφείς:	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.
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Elsevier 2002
Θέματα:	Articles
Διαθέσιμο Online:	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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