Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene
Identifieur interne : 002F92 ( Main/Curation ); 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
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ISTEX:10B0CE8286EB22C8D8C4A5724F4B17205292E946Le document en format XML
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<author><name sortKey="Timmann, Dagmar" sort="Timmann, Dagmar" uniqKey="Timmann D" first="Dagmar" last="Timmann">Dagmar Timmann</name>
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<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. Disord.</title>
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<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Phenotype</term>
<term>Protein Kinase C (genetics)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
<term>Spinocerebellar Ataxias (pathology)</term>
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<term>Family Health</term>
<term>Female</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation, Missense</term>
<term>Phenotype</term>
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