Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene
Identifieur interne : 002F92 ( Main/Exploration ); précédent : 002F91; suivant : 002F93Benign 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
Affiliations:
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Le document en format XML
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Gizewski</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Diagnostic and Interventional Radiology and Neuroradiology, University of Duisburg‐Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author><author><name sortKey="Alheite, Ingrid" sort="Alheite, Ingrid" uniqKey="Alheite I" first="Ingrid" last="Alheite">Ingrid Alheite</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Ruhr‐University, Human Genetics, Bochum</wicri:regionArea><wicri:noRegion>Bochum</wicri:noRegion><wicri:noRegion>Bochum</wicri:noRegion></affiliation></author><author><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Duisburg‐Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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