Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo L, Pende D, Griffiths G, Aricò M. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. Haematologica 2008, 93: 1086-1090. PMID: 18492689, DOI: 10.3324/haematol.12622.Peer-Reviewed Original ResearchConceptsDeep intronic mutationsIntronic mutationSplicing errorsFamilial hemophagocytic lymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis type 3Hemophagocytic lymphohistiocytosisMRNA splicingRegulatory sequencesAberrant splicingImpaired splicingSplicing mutationSplicingAcceptor sitesExon 11Secretory granulesMunc13-4 proteinMolecular defectsMutationsFunctional impactUNC13D mutationsCellular cytotoxicityUNC13DClinical pictureLymphohistiocytosisMunc13
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply