Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
Saved in:
| Title: | Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. |
|---|---|
| Authors: | Burkitt-Wright EM; Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Bradley L, Shorto J, McConnell VP, Gannon C, Firth HV, Park SM, D'Amore A, Munyard PF, Turnpenny PD, Charlton A, Wilson M, Kerr B |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2012 May; Vol. 158A (5), pp. 1102-10. Date of Electronic Publication: 2012 Apr 11. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
|---|---|
| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 22495892 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
| IllustrationInfo | |
| Items | – Name: Title Label: Title Group: Ti Data: Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Burkitt-Wright+EM%22">Burkitt-Wright EM</searchLink>; Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Bradley+L%22">Bradley L</searchLink><br /><searchLink fieldCode="AU" term="%22Shorto+J%22">Shorto J</searchLink><br /><searchLink fieldCode="AU" term="%22McConnell+VP%22">McConnell VP</searchLink><br /><searchLink fieldCode="AU" term="%22Gannon+C%22">Gannon C</searchLink><br /><searchLink fieldCode="AU" term="%22Firth+HV%22">Firth HV</searchLink><br /><searchLink fieldCode="AU" term="%22Park+SM%22">Park SM</searchLink><br /><searchLink fieldCode="AU" term="%22D'Amore+A%22">D'Amore A</searchLink><br /><searchLink fieldCode="AU" term="%22Munyard+PF%22">Munyard PF</searchLink><br /><searchLink fieldCode="AU" term="%22Turnpenny+PD%22">Turnpenny PD</searchLink><br /><searchLink fieldCode="AU" term="%22Charlton+A%22">Charlton A</searchLink><br /><searchLink fieldCode="AU" term="%22Wilson+M%22">Wilson M</searchLink><br /><searchLink fieldCode="AU" term="%22Kerr+B%22">Kerr B</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2012 May; Vol. 158A (5), pp. 1102-10. <i>Date of Electronic Publication: </i>2012 Apr 11. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=22495892 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.35296 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1102 Titles: – TitleFull: Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Burkitt-Wright EM – PersonEntity: Name: NameFull: Bradley L – PersonEntity: Name: NameFull: Shorto J – PersonEntity: Name: NameFull: McConnell VP – PersonEntity: Name: NameFull: Gannon C – PersonEntity: Name: NameFull: Firth HV – PersonEntity: Name: NameFull: Park SM – PersonEntity: Name: NameFull: D'Amore A – PersonEntity: Name: NameFull: Munyard PF – PersonEntity: Name: NameFull: Turnpenny PD – PersonEntity: Name: NameFull: Charlton A – PersonEntity: Name: NameFull: Wilson M – PersonEntity: Name: NameFull: Kerr B IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 05 Text: 2012 May Type: published Y: 2012 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 158A – Type: issue Value: 5 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
| ResultId | 1 |