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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...

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Publicado no:Proc Natl Acad Sci U S A
Principais autores: Pham-Dinh, D, Popot, J L, Boespflug-Tanguy, O, Landrieu, P, Deleuze, J F, Boué, J, Jollès, P, Dautigny, A
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 1991
Assuntos:
Research Article
Acesso em linha: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
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