Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene.
Identifieur interne : 001E01 ( Ncbi/Checkpoint ); précédent : 001E00; suivant : 001E02Benign 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
Affiliations:
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pubmed:17708558Le document en format XML
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