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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: The American Society of Human Genetics 2002
Sujets:
Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC378540/
https://ncbi.nlm.nih.gov/pubmed/12297985
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires