Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

Lignende værker

• The role of somatic NLRP3 mosaicism and new gene discovery in mutation negative cryopyrin-associated periodic syndrome patients
  af: Gomes, Sonia Melo, et al.
  Udgivet: (2014)
• Whole-Exome Sequencing Revealing Somatic NLRP3 Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome
  af: Omoyinmi, Ebun, et al.
  Udgivet: (2014)
• Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience
  af: Rowczenio, Dorota M., et al.
  Udgivet: (2017)
• First case of somatic mosaicism in TRAPS caused by a novel 24 nucleotides deletion in the TNFRSF1A gene
  af: Rowczenio, D, et al.
  Udgivet: (2015)
• Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA
  af: Gomes, S Melo, et al.
  Udgivet: (2015)