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6533b7d5fe1ef96bd1264756

RESEARCH PRODUCT

Dejerine-Sottas neuropathy associated with De Novo S79P mutation of the peripheral myelin protein 22 (PMP22) gene

Nuria ParicioSylvia BortDavid BlesaJuan J. VílchezFélix PrietoJavier García-planellsTeresa SevillaFrancesc Palau

subject

GeneticsFamily HealthMaleDNA Mutational AnalysisDNABiologyDEJERINE-SOTTAS NEUROPATHYPedigreeAmino Acid SubstitutionPeripheral myelin protein 22Child PreschoolMutation (genetic algorithm)MutationGeneticsHumansPoint MutationFemaleChildHereditary Sensory and Motor NeuropathyPmp22 geneGenetics (clinical)Myelin ProteinsPolymorphism Single-Stranded Conformational
yearjournalcountryeditionlanguage
1998-02-06
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000071842000032&KeyUID=WOS:000071842000032
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