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Article

Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.

Annals of neurology - 1 May 1999

Inoue K, Osaka H, Imaizumi K, Nezu A, Takanashi J, Arii J, Murayama K, Ono J, Kikawa Y, Mito T, Shaffer L G, Lupski J R

Abstract excerpt

Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder characterized by dysmyelination of the central nervous system (CNS) caused by mutations involving the proteolipid protein gene (PLP). In addition to point and frameshift mutations in the coding region, duplications involving the entire PLP have been recognized recently as a major genetic abnormality causing PMD. We devised an interphase fluorescence in...

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PMID: 10319885

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Proteolipid protein gene duplications causing Pelizaeus-Merzbacher disease: molecular mechanism and phenotypic manifestations.PMID 10319885Read ↗

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Pelizaeus-Merzbacher disease as a chromosomal disorder.Semantic proximity Read ↗

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Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

The molecular and cellular defects underlying Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

Identification of proteolipid protein 1 gene duplication by multiplex ligation-dependent probe amplification: first report of genetically confirmed family of Pelizaeus-Merzbacher disease in Korea.Semantic proximity Read ↗

Proteolipid protein 1 gene mutation in nine patients with Pelizaeus-Merzbacher disease.Semantic proximity Read ↗

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