1 Ocak 2013 Dergi makalesi Açık Erişim

Guven, Ayse; Tolun, Aslihan

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/15291</identifier>
  <creators>
    <creator>
      <creatorName>Guven, Ayse</creatorName>
      <givenName>Ayse</givenName>
      <familyName>Guven</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, TR-34342 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Tolun, Aslihan</creatorName>
      <givenName>Aslihan</givenName>
      <familyName>Tolun</familyName>
      <affiliation>Bogazici Univ, Dept Mol Biol &amp; Genet, TR-34342 Istanbul, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Tbc1D24 Truncating Mutation Resulting In Severe Neurodegeneration</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2013</publicationYear>
  <dates>
    <date dateType="Issued">2013-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/15291</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1136/jmedgenet-2012-101313</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>
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  <descriptions>
    <description descriptionType="Abstract">Background Recessive TBC1D24 gene mutations have been described in two families: an Italian family afflicted with familial infantile myoclonic epilepsy, and an Arab family with focal epilepsy and intellectual disability syndrome. The patients in the Italian family were compound heterozygous for two mutations, whereas those in the Arab family were homozygotes. All three mutations were missense and were determined to be loss of function. We conducted a gene search in a family we previously reported with a severe, lethal epileptic encephalopathy mapping at 16pter-p13.3.</description>
  </descriptions>
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