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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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Dettagli Bibliografici
Autori principali: Trofatter, J A, Dlouhy, S R, DeMyer, W, Conneally, P M, Hodes, M E
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1989
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC298509/
https://ncbi.nlm.nih.gov/pubmed/2480601
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