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Mutations in the ge...
Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
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Durand, Christelle. M. (author)
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Betancur, Catalina (author)
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Boeckers, Tobias M (author)
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show more...
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Bockmann, Juergen (author)
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Chaste, Pauline (author)
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Fauchereau, Fabien (author)
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- Nygren, Gudrun, 1957 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Råstam, Maria, 1948 (author)
- Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Barn- och ungdomspsykiatri,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Child and Adolescent Psychiatry,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine
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- Gillberg, I Carina, 1949 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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- Anckarsäter, Henrik, 1966 (author)
- Lund University,Lunds universitet,Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry,Rättspsykiatri, Malmö,Forskargrupper vid Lunds universitet,Forensic Psychiatry, Malmö,Lund University Research Groups
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Sponheim, Eili (author)
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Goubran-Botros, Hany (author)
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Delorme, Richard (author)
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Chabane, Nadia (author)
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Mouren-Simeoni, Marie-Christine (author)
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de Mas, Philippe (author)
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Bieth, Eric (author)
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Rogé, Bernadette (author)
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Héron, Delphine (author)
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Burglen, Lydie (author)
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- Gillberg, Christopher, 1950 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry
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Leboyer, Marion (author)
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Bourgeron, Thomas (author)
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(creator_code:org_t)
- 2006-12-17
- 2007
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 39:1, s. 25-27
- Related links:
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https://europepmc.or...
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http://www.nature.co...
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http://www.ncbi.nlm....
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http://www.ncbi.nlm.... (free)
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http://dx.doi.org/10...
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
Close
- SHANK3 (also known as ProSAP2) regulates the structural organization of dendritic spines and is a binding partner of neuroligins; genes encoding neuroligins are mutated in autism and Asperger syndrome. Here, we report that a mutation of a single copy of SHANK3 on chromosome 22q13 can result in language and/or social communication disorders. These mutations concern only a small number of individuals, but they shed light on one gene dosage-sensitive synaptic pathway that is involved in autism spectrum disorders.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Keyword
- Autistic Disorder
- Genetics
- Base Sequence
- Carrier Proteins
- Genetics
- DNA Mutational Analysis
- Female
- Genetic Screening
- Humans
- In Situ Hybridization
- Fluorescence
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Durand, Christel ...
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Betancur, Catali ...
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Boeckers, Tobias ...
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Bockmann, Juerge ...
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Chaste, Pauline
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Fauchereau, Fabi ...
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Nygren, Gudrun, ...
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Råstam, Maria, 1 ...
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Gillberg, I Cari ...
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Anckarsäter, Hen ...
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Sponheim, Eili
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Goubran-Botros, ...
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Delorme, Richard
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Chabane, Nadia
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Mouren-Simeoni, ...
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de Mas, Philippe
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Bieth, Eric
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Rogé, Bernadette
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Héron, Delphine
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Burglen, Lydie
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Gillberg, Christ ...
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Leboyer, Marion
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Bourgeron, Thoma ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
- Articles in the publication
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Nature Genetics
- By the university
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University of Gothenburg
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Lund University