Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.
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| Title: | Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 20362275 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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