Rapid genetic diagnosis in single-gene movement disorders
Identifieur interne : 000C42 ( Main/Exploration ); précédent : 000C41; suivant : 000C43Rapid genetic diagnosis in single-gene movement disorders
Auteurs : Andrew B. SingletonSource :
- Movement Disorders [ 0885-3185 ] ; 2012.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Vesicular Transport Proteins.
- diagnosis : Neuroacanthocytosis.
- genetics : Exome, Mutation, Neuroacanthocytosis.
- methods : Genetic Testing.
- Female, Humans, Male.
Url:
DOI: 10.1002/mds.24896
PubMed: 22488858
PubMed Central: 3325505
Affiliations:
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Le document en format XML
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<author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Rapid genetic diagnosis in single-gene movement disorders</title>
<author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
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<series><title level="j">Movement Disorders</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2012">2012</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Exome (genetics)</term>
<term>Female</term>
<term>Genetic Testing (methods)</term>
<term>Humans</term>
<term>Male</term>
<term>Mutation (genetics)</term>
<term>Neuroacanthocytosis (diagnosis)</term>
<term>Neuroacanthocytosis (genetics)</term>
<term>Vesicular Transport Proteins (genetics)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vesicular Transport Proteins</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Neuroacanthocytosis</term>
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<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exome</term>
<term>Mutation</term>
<term>Neuroacanthocytosis</term>
</keywords>
<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genetic Testing</term>
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<keywords scheme="MESH" xml:lang="en"><term>Female</term>
<term>Humans</term>
<term>Male</term>
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