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...

पूर्ण विवरण

ग्रंथसूची विवरण

में प्रकाशित:	Am J Hum Genet
मुख्य लेखकों:	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.
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	Elsevier 2002
विषय:	Articles
ऑनलाइन पहुंच:	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
टैग:	टैग जोड़ें कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!