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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Sangiorgi, Eugenio; Azzarà, Alessia; Molinario, Clelia; Pietrobono, Roberta; Rigante, Donato; Verrecchia, Elena; Sicignano, Ludovico Luca; Genuardi, Maurizio; Gurrieri, Fiorella; Manna, Raffaele.
Affiliation
  • Sangiorgi E; Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy. eugenio.sangiorgi@unicatt.it.
  • Azzarà A; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Roma, Italy. eugenio.sangiorgi@unicatt.it.
  • Molinario C; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Roma, Italy.
  • Pietrobono R; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Roma, Italy.
  • Rigante D; Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
  • Verrecchia E; Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Roma, Italy.
  • Sicignano LL; Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
  • Genuardi M; Istituto di Pediatria, Università Cattolica del Sacro Cuore, Roma, Italy.
  • Gurrieri F; Centro delle Febbri Periodiche, Università Cattolica del Sacro Cuore, Roma, Italy.
  • Manna R; Fondazione Policlinico Universitario A. Gemelli IRCCS, Roma, Italy.
Eur J Hum Genet ; 27(9): 1361-1368, 2019 09.
Article in En | MEDLINE | ID: mdl-31053777
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Kinases / Stomatitis, Aphthous / Pharyngitis / Mutation, Missense / Fever / Lymphadenitis Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Eur J Hum Genet Year: 2019 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Kinases / Stomatitis, Aphthous / Pharyngitis / Mutation, Missense / Fever / Lymphadenitis Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male Language: En Journal: Eur J Hum Genet Year: 2019 Document type: Article