Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3

Haematologica

Volumn 93, Issue 7, 2008, Pages 1086-1090

  Santoro, Alessandra ^a,b   Cannella, Sonia ^b   Trizzino, Antonino ^b   Bruno, Giuseppa ^b   De Fusco, Carmen ^c   Notarangelo, Luigi D ^d   Pende, Daniela ^e   Griffiths, Gillian M ^f   Aricò, Maurizio ^b,g  

^a Divisione di Ematologia   (Italy)

^b Ospedale dei Bambini G Di Cristina   (Italy)

^c Ospedale Pausilipon   (Italy)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e UNIVERSITY OF GENOA   (Italy)

^f ADDENBROOKE S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Lymphohistiocytosis; Splicing

Indexed keywords

COMPLEMENTARY DNA; GENE PRODUCT; MESSENGER RNA; PROTEIN UNC13D;

ARTICLE; CLINICAL ARTICLE; DIAGNOSTIC VALUE; DNA SEQUENCE; EXON; FEMALE; GENE MUTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; INTRON; MALE; RNA SPLICING;

ALLELES; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; EXONS; HOMOZYGOTE; HUMANS; INTRONS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MEMBRANE PROTEINS; MODELS, BIOLOGICAL; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; RNA SPLICING; SPLICEOSOMES;

EID: 46849103879     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.12622     Document Type: Article

References (24)

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