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Publication : The anatomy and cell biology of peripheral myelin protein-22.

First Author  Snipes GJ Year  1999
Journal  Ann N Y Acad Sci Volume  883
Pages  143-51 PubMed ID  10586240
Mgi Jnum  J:59852 Mgi Id  MGI:1352222
Citation  Snipes GJ, et al. (1999) The anatomy and cell biology of peripheral myelin protein-22. Ann N Y Acad Sci 883:143-51
abstractText  The gain of function phenotypes exhibited by the heterozygous Tr, Tr-J, and CMT1A mutations indicate that these mutations interfere with more than the function of a single PMP22 allele. The identification of proteins that interact with PMP22 and that are sensitive both to stoichiometry and the effects of the mutations could provide important leads to a unified hypothesis to explain the riddle of the PMP22-related neuropathies.
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