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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1998-5-21
|
| pubmed:abstractText |
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.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
May
|
| pubmed:issn |
0364-5134
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
43
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
680-3
|
| pubmed:dateRevised |
2009-11-19
|
| pubmed:meshHeading |
pubmed-meshheading:9585367-Adult,
pubmed-meshheading:9585367-Amino Acid Substitution,
pubmed-meshheading:9585367-Child,
pubmed-meshheading:9585367-DNA Mutational Analysis,
pubmed-meshheading:9585367-Exons,
pubmed-meshheading:9585367-Female,
pubmed-meshheading:9585367-Hereditary Sensory and Motor Neuropathy,
pubmed-meshheading:9585367-Humans,
pubmed-meshheading:9585367-Male,
pubmed-meshheading:9585367-Point Mutation,
pubmed-meshheading:9585367-Serine
|
| pubmed:year |
1998
|
| pubmed:articleTitle |
Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72.
|
| pubmed:affiliation |
Department of Clinical Neurology, Institute of Neurology, London, UK.
|
| pubmed:publicationType |
Journal Article,
Case Reports
|