Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene
Identifieur interne : 003F14 ( Main/Merge ); précédent : 003F13; suivant : 003F15Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene
Auteurs : Stefan Wieczorek [Allemagne] ; Larissa Arning [Allemagne] ; Elke R. Gizewski [Allemagne] ; Ingrid Alheite [Allemagne] ; Dagmar Timmann [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-10-31.
Descripteurs français
- Wicri :
- geographic : Allemagne.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein Kinase C.
- geographic : Germany.
- genetics : Exons, Spinocerebellar Ataxias.
- pathology : Spinocerebellar Ataxias.
- Aged, Family Health, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Missense, Phenotype.
Url:
DOI: 10.1002/mds.21673
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ISTEX:10B0CE8286EB22C8D8C4A5724F4B17205292E946Le document en format XML
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