Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.
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| Title: | Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome. |
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| Authors: | Gordon ER; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States., Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States., Sosonkina N; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Pugh J; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States., Cooper SJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States. |
| Source: | Frontiers in genetics [Front Genet] 2024 Dec 16; Vol. 15, pp. 1435734. Date of Electronic Publication: 2024 Dec 16 (Print Publication: 2024). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39737004 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Gordon+ER%22">Gordon ER</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.<br /><searchLink fieldCode="AU" term="%22Felker+SA%22">Felker SA</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States.<br /><searchLink fieldCode="AU" term="%22Coleman+TF%22">Coleman TF</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States.<br /><searchLink fieldCode="AU" term="%22Sosonkina+N%22">Sosonkina N</searchLink>; Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.<br /><searchLink fieldCode="AU" term="%22Pugh+J%22">Pugh J</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States.<br /><searchLink fieldCode="AU" term="%22Cochran+ME%22">Cochran ME</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States.; Smith Family Clinic for Genomic Medicine, Huntsville, AL, United States.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, United States.<br /><searchLink fieldCode="AU" term="%22Cooper+SJ%22">Cooper SJ</searchLink>; HudsonAlpha Institute for Biotechnology, Huntsville, AL, United States. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2024 Dec 16; Vol. 15, pp. 1435734. <i>Date of Electronic Publication: </i>2024 Dec 16 (<i>Print Publication: </i>2024). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39737004 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fgene.2024.1435734 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1435734 Titles: – TitleFull: Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Gordon ER – PersonEntity: Name: NameFull: Felker SA – PersonEntity: Name: NameFull: Coleman TF – PersonEntity: Name: NameFull: Sosonkina N – PersonEntity: Name: NameFull: Pugh J – PersonEntity: Name: NameFull: Cochran ME – PersonEntity: Name: NameFull: Hurst ACE – PersonEntity: Name: NameFull: Cooper SJ IsPartOfRelationships: – BibEntity: Dates: – D: 16 M: 12 Text: 2024 Dec 16 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 1664-8021 Numbering: – Type: volume Value: 15 Titles: – TitleFull: Frontiers in genetics Type: main |
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