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. |