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Mutation screening ...
Mutation screening of the ARX gene in patients with autism.
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Chaste, Pauline (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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- 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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- 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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Coleman, Mary (author)
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Leboyer, Marion (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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Betancur, Catalina (author)
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(creator_code:org_t)
- Wiley, 2007
- 2007
- English.
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In: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics. - : Wiley. - 1552-4841 .- 1552-485X. ; 144B:2, s. 228-230
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Abstract
Subject headings
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- Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia. Furthermore, ARX mutations have been described in a few patients with autism or autistic features. In this study, we screened the ARX gene in 226 male patients with autism spectrum disorders and mental retardation; 42 of the patients had epilepsy. The mutation analysis was performed by direct sequencing of all exons and flanking regions. No ARX mutations were identified in any of the patients tested. These findings indicate that mutations in the ARX gene are very rare in autism.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
Keyword
- Autistic Disorder
- Genetics
- DNA Mutational Analysis
- Female
- Genetic Testing
- Homeodomain Proteins
- Genetics
- Humans
- Male
- Mutation
- Genetics
- Transcription Factors
- Genetics
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Chaste, Pauline
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Nygren, Gudrun, ...
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Anckarsäter, Hen ...
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Råstam, Maria, 1 ...
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Coleman, Mary
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Leboyer, Marion
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show more...
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Gillberg, Christ ...
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Betancur, Catali ...
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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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American Journal ...
- By the university
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University of Gothenburg
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Lund University