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Deficiency of Complement 1r Subcomponent in Early-Onset Systemic Lupus Erythematosus: The Role of Disease-Modifying Alleles in a Monogenic Disease

Demirkaya, Erkan; Zhou, Qing; Smith, Carolyne K.; Ombrello, Michael J.; Deuitch, Natalie; Tsai, Wanxia L.; Hoffmann, Patrycja; Remmers, Elaine F.; Takeuchi, Masaki; Park, Yong Hwan; Chae, JaeJin; Barut, Kenan; Simsek, Dogan; Adrovic, Amra; Sahin, Sezgin; Caliskan, Salim; Chandrasekharappa, Settara C.; Hasni, Sarfaraz A.; Ombrello, Amanda K.; Gadina, Massimo; Gadina, Massimo


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      <creatorName>Demirkaya, Erkan</creatorName>
      <givenName>Erkan</givenName>
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      <affiliation>NHGRI, NIH, CRC Bldg 10,Room B2-5235,9000 Rockville Pike, Bethesda, MD 20892 USA</affiliation>
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    <creator>
      <creatorName>Zhou, Qing</creatorName>
      <givenName>Qing</givenName>
      <familyName>Zhou</familyName>
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    <creator>
      <creatorName>Smith, Carolyne K.</creatorName>
      <givenName>Carolyne K.</givenName>
      <familyName>Smith</familyName>
      <affiliation>NIAMSD, NIH, Bethesda, MD 20892 USA</affiliation>
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    <creator>
      <creatorName>Ombrello, Michael J.</creatorName>
      <givenName>Michael J.</givenName>
      <familyName>Ombrello</familyName>
      <affiliation>NIAMSD, NIH, Bethesda, MD 20892 USA</affiliation>
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    <creator>
      <creatorName>Deuitch, Natalie</creatorName>
      <givenName>Natalie</givenName>
      <familyName>Deuitch</familyName>
      <affiliation>NHGRI, NIH, CRC Bldg 10,Room B2-5235,9000 Rockville Pike, Bethesda, MD 20892 USA</affiliation>
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    <creator>
      <creatorName>Tsai, Wanxia L.</creatorName>
      <givenName>Wanxia L.</givenName>
      <familyName>Tsai</familyName>
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      <creatorName>Hoffmann, Patrycja</creatorName>
      <givenName>Patrycja</givenName>
      <familyName>Hoffmann</familyName>
      <affiliation>NHGRI, NIH, CRC Bldg 10,Room B2-5235,9000 Rockville Pike, Bethesda, MD 20892 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Remmers, Elaine F.</creatorName>
      <givenName>Elaine F.</givenName>
      <familyName>Remmers</familyName>
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    <creator>
      <creatorName>Takeuchi, Masaki</creatorName>
      <givenName>Masaki</givenName>
      <familyName>Takeuchi</familyName>
      <affiliation>NHGRI, NIH, CRC Bldg 10,Room B2-5235,9000 Rockville Pike, Bethesda, MD 20892 USA</affiliation>
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    <creator>
      <creatorName>Park, Yong Hwan</creatorName>
      <givenName>Yong Hwan</givenName>
      <familyName>Park</familyName>
      <affiliation>NHGRI, NIH, CRC Bldg 10,Room B2-5235,9000 Rockville Pike, Bethesda, MD 20892 USA</affiliation>
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    <creator>
      <creatorName>Chae, JaeJin</creatorName>
      <givenName>JaeJin</givenName>
      <familyName>Chae</familyName>
      <affiliation>NHGRI, NIH, CRC Bldg 10,Room B2-5235,9000 Rockville Pike, Bethesda, MD 20892 USA</affiliation>
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    <creator>
      <creatorName>Barut, Kenan</creatorName>
      <givenName>Kenan</givenName>
      <familyName>Barut</familyName>
      <affiliation>Istanbul Univ, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Simsek, Dogan</creatorName>
      <givenName>Dogan</givenName>
      <familyName>Simsek</familyName>
      <affiliation>Gulhane Educ &amp; Res Hosp, Ankara, Turkey</affiliation>
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    <creator>
      <creatorName>Adrovic, Amra</creatorName>
      <givenName>Amra</givenName>
      <familyName>Adrovic</familyName>
      <affiliation>Istanbul Univ, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Sahin, Sezgin</creatorName>
      <givenName>Sezgin</givenName>
      <familyName>Sahin</familyName>
      <affiliation>Istanbul Univ, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Caliskan, Salim</creatorName>
      <givenName>Salim</givenName>
      <familyName>Caliskan</familyName>
      <affiliation>Istanbul Univ, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Chandrasekharappa, Settara C.</creatorName>
      <givenName>Settara C.</givenName>
      <familyName>Chandrasekharappa</familyName>
      <affiliation>NHGRI, NIH, CRC Bldg 10,Room B2-5235,9000 Rockville Pike, Bethesda, MD 20892 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Hasni, Sarfaraz A.</creatorName>
      <givenName>Sarfaraz A.</givenName>
      <familyName>Hasni</familyName>
      <affiliation>NIAMSD, NIH, Bethesda, MD 20892 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Ombrello, Amanda K.</creatorName>
      <givenName>Amanda K.</givenName>
      <familyName>Ombrello</familyName>
      <affiliation>NHGRI, NIH, CRC Bldg 10,Room B2-5235,9000 Rockville Pike, Bethesda, MD 20892 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Gadina, Massimo</creatorName>
      <givenName>Massimo</givenName>
      <familyName>Gadina</familyName>
      <affiliation>NIAMSD, NIH, Bethesda, MD 20892 USA</affiliation>
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    <creator>
      <creatorName>Gadina, Massimo</creatorName>
      <givenName>Massimo</givenName>
      <familyName>Gadina</familyName>
      <affiliation>NIAMSD, NIH, Bethesda, MD 20892 USA</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Deficiency Of Complement 1R Subcomponent In Early-Onset Systemic Lupus Erythematosus: The Role Of Disease-Modifying Alleles In A Monogenic Disease</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2017</publicationYear>
  <dates>
    <date dateType="Issued">2017-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/45703</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1002/art.40158</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="Abstract">Objective. To identify a genetic cause of early-onset systemic lupus erythematosus (SLE) in a large consanguineous family from Turkey and to study the mechanisms of the disease.</description>
  </descriptions>
</resource>
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