Neurofilament M gene in a French-Canadian population with Parkinson's disease.
Identifieur interne : 000526 ( Ncbi/Curation ); précédent : 000525; suivant : 000527Neurofilament M gene in a French-Canadian population with Parkinson's disease.
Auteurs : F. Han [Canada] ; D E Bulman ; M. Panisset ; D A GrimesSource :
- The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques [ 0317-1671 ] ; 2005.
Descripteurs français
- Wicri :
- geographic : Canada.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Neurofilament Proteins.
- geographic , epidemiology : Canada.
- genetics : Parkinson Disease.
- Aged, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Mutation, Polymerase Chain Reaction.
Abstract
Recently, a single base pair substitution (G1747A) mutation of the neurofilament M (NF-M) gene was reported in a French-Canadian patient with early onset Parkinson's disease (PD). Three unaffected siblings were found to be heterozygotes for the NF-M Gly336Ser mutation but, to date, no other affected PD individuals have been found with a similar mutation. No other individuals with Parkinson's disease and of similar ethnic background have been screened for this mutation.
PubMed: 15825549
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pubmed:15825549Le document en format XML
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<author><name sortKey="Han, F" sort="Han, F" uniqKey="Han F" first="F" last="Han">F. Han</name>
<affiliation wicri:level="1"><nlm:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada.</nlm:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa</wicri:regionArea>
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<author><name sortKey="Han, F" sort="Han, F" uniqKey="Han F" first="F" last="Han">F. Han</name>
<affiliation wicri:level="1"><nlm:affiliation>Ottawa Health Research Institute, University of Ottawa, Centre for Neuromuscular Disease, Ottawa, Canada.</nlm:affiliation>
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<series><title level="j">The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques</title>
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<term>DNA Mutational Analysis</term>
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<term>Humans</term>
<term>Male</term>
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<term>Neurofilament Proteins (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Polymerase Chain Reaction</term>
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<term>Middle Aged</term>
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<front><div type="abstract" xml:lang="en">Recently, a single base pair substitution (G1747A) mutation of the neurofilament M (NF-M) gene was reported in a French-Canadian patient with early onset Parkinson's disease (PD). Three unaffected siblings were found to be heterozygotes for the NF-M Gly336Ser mutation but, to date, no other affected PD individuals have been found with a similar mutation. No other individuals with Parkinson's disease and of similar ethnic background have been screened for this mutation.</div>
</front>
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