Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI.
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| Title: | Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. |
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| Authors: | Jin Z; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Burrage LC; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.; Texas Children's Hospital Houston TX USA., Jiang MM; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Lee YC; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Bertin T; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Chen Y; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Tran A; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine Houston TX USA., Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine Houston TX USA., Sutton VR; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Rauch F; Shriners Hospital for Children and McGill University Montreal Canada., Lee B; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA., Jain M; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.; Kennedy Krieger Institute Baltimore MD USA. |
| Source: | JBMR plus [JBMR Plus] 2018 Apr 16; Vol. 2 (4), pp. 235-239. Date of Electronic Publication: 2018 Apr 16 (Print Publication: 2018). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 101707013 Publication Model: eCollection Cited Medium: Internet ISSN: 2473-4039 (Electronic) Linking ISSN: 24734039 NLM ISO Abbreviation: JBMR Plus Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 30283904 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Jin+Z%22">Jin Z</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Burrage+LC%22">Burrage LC</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.; Texas Children's Hospital Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Jiang+MM%22">Jiang MM</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Lee+YC%22">Lee YC</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Bertin+T%22">Bertin T</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Chen+Y%22">Chen Y</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Tran+A%22">Tran A</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Gibbs+RA%22">Gibbs RA</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Jhangiani+S%22">Jhangiani S</searchLink>; Human Genome Sequencing Center, Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Sutton+VR%22">Sutton VR</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Rauch+F%22">Rauch F</searchLink>; Shriners Hospital for Children and McGill University Montreal Canada.<br /><searchLink fieldCode="AU" term="%22Lee+B%22">Lee B</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.<br /><searchLink fieldCode="AU" term="%22Jain+M%22">Jain M</searchLink>; Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA.; Kennedy Krieger Institute Baltimore MD USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101707013%22">JBMR plus</searchLink> [JBMR Plus] 2018 Apr 16; Vol. 2 (4), pp. 235-239. <i>Date of Electronic Publication: </i>2018 Apr 16 (<i>Print Publication: </i>2018). – 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="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101707013 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2473-4039 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2224734039%22">24734039 </searchLink><i>NLM ISO Abbreviation: </i>JBMR Plus <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=30283904 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/jbm4.10044 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 235 Titles: – TitleFull: Whole-Exome Sequencing Identifies an Intronic Cryptic Splice Site in SERPINF1 Causing Osteogenesis Imperfecta Type VI. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Jin Z – PersonEntity: Name: NameFull: Burrage LC – PersonEntity: Name: NameFull: Jiang MM – PersonEntity: Name: NameFull: Lee YC – PersonEntity: Name: NameFull: Bertin T – PersonEntity: Name: NameFull: Chen Y – PersonEntity: Name: NameFull: Tran A – PersonEntity: Name: NameFull: Gibbs RA – PersonEntity: Name: NameFull: Jhangiani S – PersonEntity: Name: NameFull: Sutton VR – PersonEntity: Name: NameFull: Rauch F – PersonEntity: Name: NameFull: Lee B – PersonEntity: Name: NameFull: Jain M IsPartOfRelationships: – BibEntity: Dates: – D: 16 M: 04 Text: 2018 Apr 16 Type: published Y: 2018 Identifiers: – Type: issn-electronic Value: 2473-4039 Numbering: – Type: volume Value: 2 – Type: issue Value: 4 Titles: – TitleFull: JBMR plus Type: main |
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