Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.

Pelizaeus-Merzbacher disease (PMD) is a human X chromosome-linked dysmyelination disorder of the central nervous system for which the genetic defect has not yet been established. The jimpy mutation jp of the mouse is an X chromosome-linked disorder of myelin formation. The mutation is at an intron/e...

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Pubblicato in:	Proc Natl Acad Sci U S A
Autori principali:	Trofatter, J A, Dlouhy, S R, DeMyer, W, Conneally, P M, Hodes, M E
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	National Academy of Sciences 1989
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC298509/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2480601/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.86.23.9427
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