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Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.

The nosology of the inborn errors of myelin metabolism has been stymied by the lack of molecular genetic analysis. Historically, Pelizaeus-Merzbacher disease has encompassed a host of neurologic disorders that present with a deficit of myelin, the membrane elaborated by glial cells that encircles an...

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Bibliografiska uppgifter
Huvudupphovsmän: Gencic, S, Abuelo, D, Ambler, M, Hudson, L D
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1989
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683421/
https://ncbi.nlm.nih.gov/pubmed/2773936
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