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Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx(−/−) mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations...

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Bibliografski detalji
Glavni autori: Boerkoel, Cornelius F., Takashima, Hiroshi, Stankiewicz, Pawel, Garcia, Carlos A., Leber, Steven M., Rhee-Morris, Laila, Lupski, James R.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2001
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235266/
https://ncbi.nlm.nih.gov/pubmed/11133365
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