onr:"swepub:oai:DiVA.org:uu-14386"
Sökning: onr:"swepub:oai:DiVA.org:uu-14386" > Linkage and mutatio...
- 1 av 1
- Föregående post
- Nästa post
- Till träfflistan
| Fältnamn | Indikatorer | Metadata |
|---|---|---|
| 000 | 03378naa a2200601 4500 | |
| 001 | oai:DiVA.org:uu-14386 | |
| 003 | SwePub | |
| 008 | 080130s2007 | |||||||||||000 ||eng| | |
| 024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-143862 URI |
| 024 | 7 | a https://doi.org/10.1016/j.eplepsyres.2007.05.0042 DOI |
| 040 | a (SwePub)uu | |
| 041 | a engb eng | |
| 042 | 9 SwePub | |
| 072 | 7 | a ref2 swepub-contenttype |
| 072 | 7 | a art2 swepub-publicationtype |
| 100 | 1 | a Everett, Kate4 aut |
| 245 | 1 0 | a Linkage and mutational analysis of CLCN2 in childhood absence epilepsy |
| 264 | 1 | b Elsevier BV,c 2007 |
| 338 | a print2 rdacarrier | |
| 520 | a In order to assess the chloride channel gene CLCN2 as a candidate susceptibility gene for childhood absence epilepsy, parametric and non-parametric linkage analysis was performed in 65 nuclear pedigrees. This provided suggestive evidence for linkage with heterogeneity: NPL score=2.3, p<0.009; HLOD=1.5, α=0.44. Mutational analysis of the entire genomic sequence of CLCN2 was performed in 24 unrelated patients from pedigrees consistent with linkage, identifying 45 sequence variants including the known non-synonymous polymorphism rs2228292 (G2154C, Glu718Asp) and a novel variant IVS4+12G>A. Intra-familial association analysis using the pedigrees and a further 308 parent–child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT , p<0.03. Case–control analysis provided evidence for a protective effect of the IVS4+12G>A minor allele: , p<0.008. The 65 nuclear pedigrees were screened for three previously identified mutations shown to segregate with a variety of idiopathic generalised epilepsy phenotypes (597insG, IVS2-14del11 and G2144A) but none were found. We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy. | |
| 653 | a Association | |
| 653 | a Childhood absence epilepsy | |
| 653 | a CLCN2; Linkage | |
| 653 | a Mutation screening | |
| 653 | a MEDICINE | |
| 653 | a MEDICIN | |
| 700 | 1 | a Chioza, Barry4 aut |
| 700 | 1 | a Aicardi, Jean4 aut |
| 700 | 1 | a Aschauer, Harald4 aut |
| 700 | 1 | a Brouwer, Oebele4 aut |
| 700 | 1 | a Callenbach, Petra4 aut |
| 700 | 1 | a Covanis, Athanasios4 aut |
| 700 | 1 | a Dooley, Joseph4 aut |
| 700 | 1 | a Dulac, Olivier4 aut |
| 700 | 1 | a Durner, Martina4 aut |
| 700 | 1 | a Eeg-Olofsson, Orvaru Uppsala universitet,Institutionen för kvinnors och barns hälsa,Barnneurologisk forskning/Ahlsten4 aut0 (Swepub:uu)orvareo |
| 700 | 1 | a Feucht, Martha4 aut |
| 700 | 1 | a Friis, Mogens4 aut |
| 700 | 1 | a Guerrini, Renzo4 aut |
| 700 | 1 | a Heils, Armin4 aut |
| 700 | 1 | a Kjeldsen, Marianne4 aut |
| 700 | 1 | a Nabbout, Rima4 aut |
| 700 | 1 | a Sander, Thomas4 aut |
| 700 | 1 | a Wirrell, Elaine4 aut |
| 700 | 1 | a McKeigue, Paul4 aut |
| 700 | 1 | a Robinson, Robert4 aut |
| 700 | 1 | a Taske, Nichole4 aut |
| 700 | 1 | a Gardiner, Mark4 aut |
| 710 | 2 | a Uppsala universitetb Institutionen för kvinnors och barns hälsa4 org |
| 773 | 0 | t Epilepsy Researchd : Elsevier BVg 75:2-3, s. 145-153q 75:2-3<145-153x 0920-1211x 1872-6844 |
| 856 | 4 | u https://discovery.ucl.ac.uk/8217/1/8217.pdf |
| 856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-14386 |
| 856 | 4 8 | u https://doi.org/10.1016/j.eplepsyres.2007.05.004 |
- 1 av 1
- Föregående post
- Nästa post
- Till träfflistan
Hitta mer i SwePub
- Av författaren/redakt...
- Everett, Kate
- Chioza, Barry
- Aicardi, Jean
- Aschauer, Harald
- Brouwer, Oebele
- Callenbach, Petr ...
- visa fler...
- Covanis, Athanas ...
- Dooley, Joseph
- Dulac, Olivier
- Durner, Martina
- Eeg-Olofsson, Or ...
- Feucht, Martha
- Friis, Mogens
- Guerrini, Renzo
- Heils, Armin
- Kjeldsen, Marian ...
- Nabbout, Rima
- Sander, Thomas
- Wirrell, Elaine
- McKeigue, Paul
- Robinson, Robert
- Taske, Nichole
- Gardiner, Mark
- visa färre...
- Artiklar i publikationen
- Epilepsy Researc ...
- Av lärosätet
- Uppsala universitet
Sök utanför SwePub
- Sök vidare i:
- Google Book Search
- Google Scholar
Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.
- Copyright © LIBRIS - Nationella bibliotekssystem
- LIBRIS.kb.se
