View in EDS

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

Saved in:
Bibliographic Details
Title: Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.
Authors: Burkitt-Wright, Emma M.M.1, Bradley, Lisa2, Shorto, Jennifer1, McConnell, Vivienne P.M.2, Gannon, Caroline3, Firth, Helen V.4, Park, Soo-Mi4, D'Amore, Angela5, Munyard, Paul F.6, Turnpenny, Peter D.7, Charlton, Amanda8, Wilson, Meredith9, Kerr, Bronwyn1
Source: American Journal of Medical Genetics. Part A; May2012, Vol. 158A Issue 5, p1102-1110, 9p
Database: Applied Science & Technology Source
FullText Text:
  Availability: 0
Header DbId: aci
DbLabel: Applied Science & Technology Source
An: 74436676
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%2C+Emma+M%2EM%2E%22">Burkitt-Wright, Emma M.M.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Bradley%2C+Lisa%22">Bradley, Lisa</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Shorto%2C+Jennifer%22">Shorto, Jennifer</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22McConnell%2C+Vivienne+P%2EM%2E%22">McConnell, Vivienne P.M.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Gannon%2C+Caroline%22">Gannon, Caroline</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AU" term="%22Firth%2C+Helen+V%2E%22">Firth, Helen V.</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AU" term="%22Park%2C+Soo-Mi%22">Park, Soo-Mi</searchLink><relatesTo>4</relatesTo><br /><searchLink fieldCode="AU" term="%22D'Amore%2C+Angela%22">D'Amore, Angela</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AU" term="%22Munyard%2C+Paul+F%2E%22">Munyard, Paul F.</searchLink><relatesTo>6</relatesTo><br /><searchLink fieldCode="AU" term="%22Turnpenny%2C+Peter+D%2E%22">Turnpenny, Peter D.</searchLink><relatesTo>7</relatesTo><br /><searchLink fieldCode="AU" term="%22Charlton%2C+Amanda%22">Charlton, Amanda</searchLink><relatesTo>8</relatesTo><br /><searchLink fieldCode="AU" term="%22Wilson%2C+Meredith%22">Wilson, Meredith</searchLink><relatesTo>9</relatesTo><br /><searchLink fieldCode="AU" term="%22Kerr%2C+Bronwyn%22">Kerr, Bronwyn</searchLink><relatesTo>1</relatesTo>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; May2012, Vol. 158A Issue 5, p1102-1110, 9p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=74436676
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.35296
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        PageCount: 9
        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, Emma M.M.
      – PersonEntity:
          Name:
            NameFull: Bradley, Lisa
      – PersonEntity:
          Name:
            NameFull: Shorto, Jennifer
      – PersonEntity:
          Name:
            NameFull: McConnell, Vivienne P.M.
      – PersonEntity:
          Name:
            NameFull: Gannon, Caroline
      – PersonEntity:
          Name:
            NameFull: Firth, Helen V.
      – PersonEntity:
          Name:
            NameFull: Park, Soo-Mi
      – PersonEntity:
          Name:
            NameFull: D'Amore, Angela
      – PersonEntity:
          Name:
            NameFull: Munyard, Paul F.
      – PersonEntity:
          Name:
            NameFull: Turnpenny, Peter D.
      – PersonEntity:
          Name:
            NameFull: Charlton, Amanda
      – PersonEntity:
          Name:
            NameFull: Wilson, Meredith
      – PersonEntity:
          Name:
            NameFull: Kerr, Bronwyn
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: May2012
              Type: published
              Y: 2012
          Identifiers:
            – Type: issn-print
              Value: 15524825
          Numbering:
            – Type: volume
              Value: 158A
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: American Journal of Medical Genetics. Part A
              Type: main
ResultId 1