Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

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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
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  Data: Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
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  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>
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  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.
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        Value: 10.1002/ajmg.a.35296
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        Text: English
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