Identification of a 4 bp deletion (1560de14) in Po gene in a family with severe charcot-Marie-Tooth disease
- 1 January 1996
- journal article
- mutation note
- Published by Hindawi Limited in Human Mutation
- Vol. 7 (4) , 377-378
- https://doi.org/10.1002/humu.1380070403
Abstract
Click on the article title to read more.Keywords
This publication has 6 references indexed in Scilit:
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- Identification of a de novo insertional mutation in Po in a patient with a Déjérine - Sottas syndrome (DSS) phenotypeHuman Molecular Genetics, 1994
- Mutations in demyelinating peripheral neuropathies support molecular model of myelin PO‐glycoprotein extracellular domainJournal of Neuroscience Research, 1994
- The cytoplasmic domain of myelin glycoprotein P0 interacts with negatively charged phospholipid bilayers.Journal of Biological Chemistry, 1994
- The major peripheral myelin protein zero gene: structure and localization in the cluster of Fcγ receptor genes on human chromosome 1q21.3 – q23Human Molecular Genetics, 1993
- Charcot-Marie-Tooth Disease Type 1A -- Association with a Spontaneous Point Mutation in the PMP22 GeneNew England Journal of Medicine, 1993