The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
Identifieur interne : 001B03 ( Ncbi/Curation ); précédent : 001B02; suivant : 001B04The (-16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients.
Auteurs : Claudia Cagnoli ; Alessandro Brussino ; Eleonora Di Gregorio ; Alfredo Brusco ; Giovanni Stevanin ; Alexandra Durr ; Alexis BriceSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Europe, European Continental Ancestry Group (genetics), Female, Genes, Dominant, Genetics, Population, Guanine Nucleotide Exchange Factors (genetics), Humans, Male, Middle Aged, Spectrin (genetics), Spinocerebellar Ataxias (diagnosis), Spinocerebellar Ataxias (genetics).
- MESH :
- chemical , genetics : Guanine Nucleotide Exchange Factors, Spectrin.
- geographic : Europe.
- diagnosis : Spinocerebellar Ataxias.
- genetics : European Continental Ancestry Group, Spinocerebellar Ataxias.
- Adolescent, Adult, Aged, Chromosome Aberrations, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Female, Genes, Dominant, Genetics, Population, Humans, Male, Middle Aged.
DOI: 10.1002/mds.21389
PubMed: 17290458
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pubmed:17290458Le document en format XML
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