Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.

In the central nervous system, myelin proteolipid protein isoforms (PLP and DM20) play an essential structural role in myelination. It has been shown in several species that myelination is impaired by molecular defects resulting from single base mutations in the PLP gene. We have used DNA amplificat...

Descrizione completa

Dettagli Bibliografici

Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	Pham-Dinh, D, Popot, J L, Boespflug-Tanguy, O, Landrieu, P, Deleuze, J F, Boué, J, Jollès, P, Dautigny, A
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 1991
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC52341/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1715570/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.17.7562
Tags:	Aggiungi Tag Nessun Tag, puoi essere il primo ad aggiungerne!!