The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients
Identifieur interne : 002B42 ( Main/Curation ); précédent : 002B41; suivant : 002B43The (−16C > T) substitution in the PLEKHG4 gene is not present among European ADCA patients
Auteurs : Claudia Cagnoli [Italie] ; Alessandro Brussino [Italie] ; Eleonora Di Gregorio [Italie] ; Alfredo Brusco [Italie] ; Giovanni Stevanin [France] ; Alexandra Durr [France] ; Alexis Brice [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-04-15.
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.
Url:
DOI: 10.1002/mds.21389
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ISTEX:3FEB49D76636FAC44F81ECB5D6A12A60408DADCFLe document en format XML
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<term>Chromosomes, Human, Pair 16</term>
<term>DNA Mutational Analysis</term>
<term>Europe</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>Genes, Dominant</term>
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<term>Guanine Nucleotide Exchange Factors (genetics)</term>
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<term>Spinocerebellar Ataxias (genetics)</term>
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<term>Aged</term>
<term>Chromosome Aberrations</term>
<term>Chromosome Mapping</term>
<term>Chromosomes, Human, Pair 16</term>
<term>DNA Mutational Analysis</term>
<term>Female</term>
<term>Genes, Dominant</term>
<term>Genetics, Population</term>
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