id:"swepub:oai:gup.ub.gu.se/143576"
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| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03325naa a2200565 4500 | |
| 001 | oai:gup.ub.gu.se/143576 | |
| 003 | SwePub | |
| 008 | 240528s2002 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://gup.ub.gu.se/publication/1435762 URI |
| 024 | 7 | a https://doi.org/10.1038/sj.mp.40010712 DOI |
| 040 | a (SwePub)gu | |
| 041 | a eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Krebs, Marie-Odile4 aut |
| 245 | 1 0 | a Absence of association between a polymorphic GGC repeat in the 5' untranslated region of the reelin gene and autism. |
| 264 | c 2002-08-23 | |
| 264 | 1 | b Springer Science and Business Media LLC,c 2002 |
| 520 | a Autism is a complex neurodevelopmental disorder with severe cognitive and communication disabilities, that has a strong genetic predisposition predisposition.1 Reelin, a protein involved in neuronal migration during development, is encoded by a gene located on 7q22, 7q22,2 within the candidate region on 7q showing increased allele sharing in previous genome scans. 3–8 A case/control and family-based association study recently reported a positive association between a trinucleotide repeat polymorphism (GGC) located in the 5′ untranslated region (UTR) of the reelin gene and autism. 9 We performed a transmission disequilibrium test (TDT) analysis of the 5′UTR polymorphism in 167 families including 218 affected subjects (117 trios and 50 affected sib pairs) and found no evidence of linkage/association. Our results do not support previous findings and suggest that the reelin gene is unlikely to play a major role as a susceptibility factor in autism and/or genetic heterogeneity. | |
| 650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe |
| 650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng |
| 653 | a 5' Untranslated Regions | |
| 653 | a genetics | |
| 653 | a Autistic Disorder | |
| 653 | a genetics | |
| 653 | a Cell Adhesion Molecules | |
| 653 | a Neuronal | |
| 653 | a genetics | |
| 653 | a Extracellular Matrix Proteins | |
| 653 | a genetics | |
| 653 | a Family Health | |
| 653 | a Female | |
| 653 | a Genotype | |
| 653 | a Humans | |
| 653 | a Linkage Disequilibrium | |
| 653 | a Male | |
| 653 | a Nerve Tissue Proteins | |
| 653 | a Serine Endopeptidases | |
| 653 | a Trinucleotide Repeats | |
| 700 | 1 | a Betancur, Catalina4 aut |
| 700 | 1 | a Sophie, Leroy4 aut |
| 700 | 1 | a Bourdel, Marie-Chantal4 aut |
| 700 | 1 | a Gillberg, Christopher,d 1950u Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri,Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry4 aut0 (Swepub:gu)xgilch |
| 700 | 1 | a Leboyer, Marion4 aut |
| 710 | 2 | a Göteborgs universitetb Institutionen för kvinnors och barns hälsa, Avdelningen för barn- och ungdomspsykiatri4 org |
| 773 | 0 | t Molecular Psychiatryd : Springer Science and Business Media LLCg 7:7, s. 801-804q 7:7<801-804x 1359-4184x 1476-5578 |
| 856 | 4 | u https://www.nature.com/articles/4001071.pdf |
| 856 | 4 8 | u https://gup.ub.gu.se/publication/143576 |
| 856 | 4 8 | u https://doi.org/10.1038/sj.mp.4001071 |
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