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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

Alternative splicing of the proteolipid protein 1 gene (PLP1) produces two forms, PLP1 and DM20, due to alternative use of 5′ splice sites with the same acceptor site in intron 3. The PLP1 form predominates in central nervous system RNA. Mutations that reduce the ratio of PLP1 to DM20, whether mutan...

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Detaylı Bibliyografya
Asıl Yazarlar: Taube, Jennifer R., Sperle, Karen, Banser, Linda, Seeman, Pavel, Cavan, Barbra Charina V., Garbern, James Y., Hobson, Grace M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2014
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4168831/
https://ncbi.nlm.nih.gov/pubmed/24890387
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu271
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