Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing.
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| Title: | Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing. |
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| Authors: | Rashka C; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France., Hergalant S; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France., Dreumont N; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France., Oussalah A; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France., Camadro JM; Université Denis Diderot - Paris 7, CNRS, UMR 7592, Paris F-75205, France., Marchand V; University of Lorraine, CNRS, INSERM, UMS2008, IBSLor, Epitranscriptomics and RNA Sequencing Core Facility, Nancy F-54000, France., Hassan Z; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France., Baumgartner MR; Radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zürich, Zürich, Switzerland., Rosenblatt DS; Department of Human Genetics, McGill University, Montreal, Canada., Feillet F; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France., Guéant JL; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France., Flayac J; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France., Coelho D; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France. |
| Source: | Human molecular genetics [Hum Mol Genet] 2020 Jul 29; Vol. 29 (12), pp. 1969-1985. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32068834 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rashka+C%22">Rashka C</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Hergalant+S%22">Hergalant S</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Dreumont+N%22">Dreumont N</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Oussalah+A%22">Oussalah A</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Camadro+JM%22">Camadro JM</searchLink>; Université Denis Diderot - Paris 7, CNRS, UMR 7592, Paris F-75205, France.<br /><searchLink fieldCode="AU" term="%22Marchand+V%22">Marchand V</searchLink>; University of Lorraine, CNRS, INSERM, UMS2008, IBSLor, Epitranscriptomics and RNA Sequencing Core Facility, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Hassan+Z%22">Hassan Z</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Baumgartner+MR%22">Baumgartner MR</searchLink>; Radiz - Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zürich, Zürich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rosenblatt+DS%22">Rosenblatt DS</searchLink>; Department of Human Genetics, McGill University, Montreal, Canada.<br /><searchLink fieldCode="AU" term="%22Feillet+F%22">Feillet F</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Guéant+JL%22">Guéant JL</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Flayac+J%22">Flayac J</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.<br /><searchLink fieldCode="AU" term="%22Coelho+D%22">Coelho D</searchLink>; Inserm UMRS 1256 NGERE - Nutrition, Genetics, and Environmental Risk Exposure, University of Lorraine, Nancy F-54000, France.; National Center of Inborn Errors of Metabolism, University Regional Hospital Center of Nancy, Nancy F-54000, France. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2020 Jul 29; Vol. 29 (12), pp. 1969-1985. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32068834 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/hmg/ddaa027 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1969 Titles: – TitleFull: Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Rashka C – PersonEntity: Name: NameFull: Hergalant S – PersonEntity: Name: NameFull: Dreumont N – PersonEntity: Name: NameFull: Oussalah A – PersonEntity: Name: NameFull: Camadro JM – PersonEntity: Name: NameFull: Marchand V – PersonEntity: Name: NameFull: Hassan Z – PersonEntity: Name: NameFull: Baumgartner MR – PersonEntity: Name: NameFull: Rosenblatt DS – PersonEntity: Name: NameFull: Feillet F – PersonEntity: Name: NameFull: Guéant JL – PersonEntity: Name: NameFull: Flayac J – PersonEntity: Name: NameFull: Coelho D IsPartOfRelationships: – BibEntity: Dates: – D: 29 M: 07 Text: 2020 Jul 29 Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1460-2083 Numbering: – Type: volume Value: 29 – Type: issue Value: 12 Titles: – TitleFull: Human molecular genetics Type: main |
| ResultId | 1 |
