G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients
Identifieur interne : 001115 ( Main/Exploration ); précédent : 001114; suivant : 001116G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients
Auteurs : H Deng [États-Unis] ; W Le [États-Unis] ; X Zhang [États-Unis] ; T Pan [États-Unis] ; J Jankovic [États-Unis]Source :
- Acta Neurologica Scandinavica [ 0001-6314 ] ; 2005-06.
Descripteurs français
- Pascal (Inist)
- Wicri :
- geographic : États-Unis.
- topic : Homme.
English descriptors
- KwdEn :
- Adult, Amino Acid Substitution, Caucasian, DNA Mutational Analysis, European Continental Ancestry Group (genetics), Female, G309D, Genetic Testing, Genome, Human, Human, Humans, Male, Middle Aged, Mutation, Mutation (genetics), Nervous system diseases, PINK1, Parkinson Disease (ethnology), Parkinson Disease (genetics), Parkinson Disease (metabolism), Parkinson disease, Parkinson's disease, Protein Kinases (genetics), United States, W437OPA.
- MESH :
- chemical , genetics : Protein Kinases.
- geographic : United States.
- ethnology : Parkinson Disease.
- genetics : European Continental Ancestry Group, Mutation, Parkinson Disease.
- metabolism : Parkinson Disease.
- Adult, Amino Acid Substitution, DNA Mutational Analysis, Female, Genetic Testing, Genome, Human, Humans, Male, Middle Aged.
Abstract
Objective – To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD). Methods – We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients. Results – None of the 237 samples showed the G309D or W437OPA mutations. Conclusions – The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.
Url:
DOI: 10.1111/j.1600-0404.2005.00383.x
Affiliations:
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Le document en format XML
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<term>Genetic Testing</term>
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<term>Humans</term>
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<term>Middle Aged</term>
<term>Mutation</term>
<term>Mutation (genetics)</term>
<term>Nervous system diseases</term>
<term>PINK1</term>
<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (metabolism)</term>
<term>Parkinson disease</term>
<term>Parkinson's disease</term>
<term>Protein Kinases (genetics)</term>
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<term>W437OPA</term>
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<term>Parkinson Disease</term>
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<term>DNA Mutational Analysis</term>
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<term>Parkinson maladie</term>
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<front><div type="abstract" xml:lang="en">Objective – To determine whether the G309D and W437OPA mutations in PINK1 gene are present in American Caucasian population of patients with Parkinson's disease (PD). Methods – We searched for the G309D and W437OPA mutation by sequencing the regions of interest in the PINK1 gene in 237 unrelated Caucasian patients. Results – None of the 237 samples showed the G309D or W437OPA mutations. Conclusions – The G309D and W437OPA mutations in PINK1 gene probably do not represent common causes of familial or sporadic PD in a Caucasian population.</div>
</front>
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