Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
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| Title: | Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. |
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| Authors: | Rice GI; Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, United Kingdom., Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ |
| Source: | Human mutation [Hum Mutat] 2013 Aug; Vol. 34 (8), pp. 1066-70. Date of Electronic Publication: 2013 May 13. |
| Publication Type: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 23592335 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rice+GI%22">Rice GI</searchLink>; Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Reijns+MA%22">Reijns MA</searchLink><br /><searchLink fieldCode="AU" term="%22Coffin+SR%22">Coffin SR</searchLink><br /><searchLink fieldCode="AU" term="%22Forte+GM%22">Forte GM</searchLink><br /><searchLink fieldCode="AU" term="%22Anderson+BH%22">Anderson BH</searchLink><br /><searchLink fieldCode="AU" term="%22Szynkiewicz+M%22">Szynkiewicz M</searchLink><br /><searchLink fieldCode="AU" term="%22Gornall+H%22">Gornall H</searchLink><br /><searchLink fieldCode="AU" term="%22Gent+D%22">Gent D</searchLink><br /><searchLink fieldCode="AU" term="%22Leitch+A%22">Leitch A</searchLink><br /><searchLink fieldCode="AU" term="%22Botella+MP%22">Botella MP</searchLink><br /><searchLink fieldCode="AU" term="%22Fazzi+E%22">Fazzi E</searchLink><br /><searchLink fieldCode="AU" term="%22Gener+B%22">Gener B</searchLink><br /><searchLink fieldCode="AU" term="%22Lagae+L%22">Lagae L</searchLink><br /><searchLink fieldCode="AU" term="%22Olivieri+I%22">Olivieri I</searchLink><br /><searchLink fieldCode="AU" term="%22Orcesi+S%22">Orcesi S</searchLink><br /><searchLink fieldCode="AU" term="%22Swoboda+KJ%22">Swoboda KJ</searchLink><br /><searchLink fieldCode="AU" term="%22Perrino+FW%22">Perrino FW</searchLink><br /><searchLink fieldCode="AU" term="%22Jackson+AP%22">Jackson AP</searchLink><br /><searchLink fieldCode="AU" term="%22Crow+YJ%22">Crow YJ</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2013 Aug; Vol. 34 (8), pp. 1066-70. <i>Date of Electronic Publication: </i>2013 May 13. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23592335 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/humu.22336 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1066 Titles: – TitleFull: Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Rice GI – PersonEntity: Name: NameFull: Reijns MA – PersonEntity: Name: NameFull: Coffin SR – PersonEntity: Name: NameFull: Forte GM – PersonEntity: Name: NameFull: Anderson BH – PersonEntity: Name: NameFull: Szynkiewicz M – PersonEntity: Name: NameFull: Gornall H – PersonEntity: Name: NameFull: Gent D – PersonEntity: Name: NameFull: Leitch A – PersonEntity: Name: NameFull: Botella MP – PersonEntity: Name: NameFull: Fazzi E – PersonEntity: Name: NameFull: Gener B – PersonEntity: Name: NameFull: Lagae L – PersonEntity: Name: NameFull: Olivieri I – PersonEntity: Name: NameFull: Orcesi S – PersonEntity: Name: NameFull: Swoboda KJ – PersonEntity: Name: NameFull: Perrino FW – PersonEntity: Name: NameFull: Jackson AP – PersonEntity: Name: NameFull: Crow YJ IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2013 Aug Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1098-1004 Numbering: – Type: volume Value: 34 – Type: issue Value: 8 Titles: – TitleFull: Human mutation Type: main |
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