MUNC13–4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis Are Scattered over the Functional Domains of the Protein.
Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, Dieli F, Bruno G, Stinchcombe J, Putti C, De Fusco C, Danesino C, Moretta L, Notarangelo L, Griffiths G, Aricò M. MUNC13–4 Mutations in Patients with Hemophagocytic Lymphohistiocytosis Are Scattered over the Functional Domains of the Protein. Blood 2006, 108: 1249. DOI: 10.1182/blood.v108.11.1249.1249.Peer-Reviewed Original ResearchProtein functional domainsFunctional domainsHemophagocytic lymphohistiocytosisProximal flanking regionsFamilial form of hemophagocytic lymphohistiocytosisInduce alternative splicingDifferential diagnosis of childrenMunc13-4 geneDocked granulesFlanking regionAlternative splicingCoding regionStop codonMunc13FHL-2Diagnosis of childrenMissense mutationsPathogenic mutationsAbstract MutationsMunc13-4 proteinUnrelated familiesHomozygous parentsNK cellsCycle sequencingPRF1 mutations
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