A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR.

Pelizaeus-Merzbacher disease (PMD) is an X-linked dysmyelinating disorder caused by abnormalities in the proteolipid protein (PLP) gene, which is essential for oligodendrocyte differentiation and CNS myelin formation. Although linkage analysis has shown the homogeneity at the PLP locus in patients w...

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Main Authors: Inoue, K., Osaka, H., Sugiyama, N., Kawanishi, C., Onishi, H., Nezu, A., Kimura, K., Yamada, Y., Kosaka, K.
Formato: Artigo
Idioma:Inglês
Publicado: 1996
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Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1915126/
https://ncbi.nlm.nih.gov/pubmed/8659540
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