| Literature DB >> 9585367 |
W Marques1, P K Thomas, M G Sweeney, L Carr, N W Wood.
Abstract
The occurrence of mutations in peripheral myelin protein 22 is one of the genetic mechanisms associated with Dejerine-Sottas neuropathy (DSN). On direct sequencing 2 of such patients we have found the first mutation in the third transmembrane domain associated with this neuropathy and the fourth Ser72Leu. We propose that the Ser72 may be a "hot spot" for DSN and that this should be considered for molecular analysis.Entities:
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Year: 1998 PMID： 9585367 DOI： 10.1002/ana.410430521
Source DB: PubMed Journal: Ann Neurol ISSN： 0364-5134 Impact factor: 10.422