Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

Saved in:
Bibliographic Details
Title: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
Authors: Alanay Y; Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara 06100, Turkey., Avaygan H, Camacho N, Utine GE, Boduroglu K, Aktas D, Alikasifoglu M, Tuncbilek E, Orhan D, Bakar FT, Zabel B, Superti-Furga A, Bruckner-Tuderman L, Curry CJ, Pyott S, Byers PH, Eyre DR, Baldridge D, Lee B, Merrill AE, Davis EC, Cohn DH, Akarsu N, Krakow D
Source: American journal of human genetics [Am J Hum Genet] 2010 Apr 09; Vol. 86 (4), pp. 551-9. Date of Electronic Publication: 2010 Apr 01.
Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
  Availability: 0
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 20362275
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Alanay+Y%22">Alanay Y</searchLink>; Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Medical Faculty, Ankara 06100, Turkey.<br /><searchLink fieldCode="AU" term="%22Avaygan+H%22">Avaygan H</searchLink><br /><searchLink fieldCode="AU" term="%22Camacho+N%22">Camacho N</searchLink><br /><searchLink fieldCode="AU" term="%22Utine+GE%22">Utine GE</searchLink><br /><searchLink fieldCode="AU" term="%22Boduroglu+K%22">Boduroglu K</searchLink><br /><searchLink fieldCode="AU" term="%22Aktas+D%22">Aktas D</searchLink><br /><searchLink fieldCode="AU" term="%22Alikasifoglu+M%22">Alikasifoglu M</searchLink><br /><searchLink fieldCode="AU" term="%22Tuncbilek+E%22">Tuncbilek E</searchLink><br /><searchLink fieldCode="AU" term="%22Orhan+D%22">Orhan D</searchLink><br /><searchLink fieldCode="AU" term="%22Bakar+FT%22">Bakar FT</searchLink><br /><searchLink fieldCode="AU" term="%22Zabel+B%22">Zabel B</searchLink><br /><searchLink fieldCode="AU" term="%22Superti-Furga+A%22">Superti-Furga A</searchLink><br /><searchLink fieldCode="AU" term="%22Bruckner-Tuderman+L%22">Bruckner-Tuderman L</searchLink><br /><searchLink fieldCode="AU" term="%22Curry+CJ%22">Curry CJ</searchLink><br /><searchLink fieldCode="AU" term="%22Pyott+S%22">Pyott S</searchLink><br /><searchLink fieldCode="AU" term="%22Byers+PH%22">Byers PH</searchLink><br /><searchLink fieldCode="AU" term="%22Eyre+DR%22">Eyre DR</searchLink><br /><searchLink fieldCode="AU" term="%22Baldridge+D%22">Baldridge D</searchLink><br /><searchLink fieldCode="AU" term="%22Lee+B%22">Lee B</searchLink><br /><searchLink fieldCode="AU" term="%22Merrill+AE%22">Merrill AE</searchLink><br /><searchLink fieldCode="AU" term="%22Davis+EC%22">Davis EC</searchLink><br /><searchLink fieldCode="AU" term="%22Cohn+DH%22">Cohn DH</searchLink><br /><searchLink fieldCode="AU" term="%22Akarsu+N%22">Akarsu N</searchLink><br /><searchLink fieldCode="AU" term="%22Krakow+D%22">Krakow D</searchLink>
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%220370475%22">American journal of human genetics</searchLink> [Am J Hum Genet] 2010 Apr 09; Vol. 86 (4), pp. 551-9. <i>Date of Electronic Publication: </i>2010 Apr 01.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
– Name: TitleSource
  Label: Journal Info
  Group: Src
  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Cell+Press%22">Cell Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370475 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1537-6605 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029297%22">00029297 </searchLink><i>NLM ISO Abbreviation: </i>Am J Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=20362275
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1016/j.ajhg.2010.02.022
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 551
    Titles:
      – TitleFull: Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Alanay Y
      – PersonEntity:
          Name:
            NameFull: Avaygan H
      – PersonEntity:
          Name:
            NameFull: Camacho N
      – PersonEntity:
          Name:
            NameFull: Utine GE
      – PersonEntity:
          Name:
            NameFull: Boduroglu K
      – PersonEntity:
          Name:
            NameFull: Aktas D
      – PersonEntity:
          Name:
            NameFull: Alikasifoglu M
      – PersonEntity:
          Name:
            NameFull: Tuncbilek E
      – PersonEntity:
          Name:
            NameFull: Orhan D
      – PersonEntity:
          Name:
            NameFull: Bakar FT
      – PersonEntity:
          Name:
            NameFull: Zabel B
      – PersonEntity:
          Name:
            NameFull: Superti-Furga A
      – PersonEntity:
          Name:
            NameFull: Bruckner-Tuderman L
      – PersonEntity:
          Name:
            NameFull: Curry CJ
      – PersonEntity:
          Name:
            NameFull: Pyott S
      – PersonEntity:
          Name:
            NameFull: Byers PH
      – PersonEntity:
          Name:
            NameFull: Eyre DR
      – PersonEntity:
          Name:
            NameFull: Baldridge D
      – PersonEntity:
          Name:
            NameFull: Lee B
      – PersonEntity:
          Name:
            NameFull: Merrill AE
      – PersonEntity:
          Name:
            NameFull: Davis EC
      – PersonEntity:
          Name:
            NameFull: Cohn DH
      – PersonEntity:
          Name:
            NameFull: Akarsu N
      – PersonEntity:
          Name:
            NameFull: Krakow D
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 09
              M: 04
              Text: 2010 Apr 09
              Type: published
              Y: 2010
          Identifiers:
            – Type: issn-electronic
              Value: 1537-6605
          Numbering:
            – Type: volume
              Value: 86
            – Type: issue
              Value: 4
          Titles:
            – TitleFull: American journal of human genetics
              Type: main
ResultId 1