CARD15 mutations in familial granulomatosis syndromes: A study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy

  • Wang X
  • Kuivaniemi H
  • Bonavita G
 et al. 
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Abstract

OBJECTIVE: To analyze the CARD15 gene in families with heritable multi-organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions. METHODS: Linkage mapping was performed in 10 families. Observed recombination events were used to exclude regions centromeric or telomeric to 16q12.1, and the Blau gene critical region was refined to

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Authors

  • Gerard TrompUniversity of Stellenbosch

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  • Xiaoju Wang

  • Helena Kuivaniemi

  • Gina Bonavita

  • Lysette Mutkus

  • Ulrike Mau

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