Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
Identifieur interne : 002558 ( PubMed/Curation ); précédent : 002557; suivant : 002559Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
Auteurs : Stefan Wieczorek ; Larissa Arning ; Elke R. Gizewski ; Ingrid Alheite ; Duymal TimmannSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
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.
DOI: 10.1002/mds.21673
PubMed: 17708558
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pubmed:17708558Le document en format XML
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Gizewski</name></author><author><name sortKey="Alheite, Ingrid" sort="Alheite, Ingrid" uniqKey="Alheite I" first="Ingrid" last="Alheite">Ingrid Alheite</name></author><author><name sortKey="Timmann, Duymal" sort="Timmann, Duymal" uniqKey="Timmann D" first="Duymal" last="Timmann">Duymal Timmann</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="doi">10.1002/mds.21673</idno><idno type="RBID">pubmed:17708558</idno><idno type="pmid">17708558</idno><idno type="wicri:Area/PubMed/Corpus">002558</idno><idno type="wicri:Area/PubMed/Curation">002558</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.</title><author><name sortKey="Wieczorek, Stefan" sort="Wieczorek, Stefan" uniqKey="Wieczorek S" first="Stefan" last="Wieczorek">Stefan Wieczorek</name></author><author><name sortKey="Arning, Larissa" sort="Arning, Larissa" uniqKey="Arning L" first="Larissa" last="Arning">Larissa Arning</name></author><author><name sortKey="Gizewski, Elke R" sort="Gizewski, Elke R" uniqKey="Gizewski E" first="Elke R" last="Gizewski">Elke R. 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