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 Palausubject
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 Conformationalyear | journal | country | edition | language |
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1998-02-06 |