Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3

British Journal of Haematology

Volumn 162, Issue 3, 2013, Pages 415-418

  Entesarian, Miriam ^a   Chiang, Samuel C C ^a   Schlums, Heinrich ^a   Meeths, Marie ^a   Chan, Mei Yoke ^b   Mya, Soe Nwe ^b   Soh, Shui Yen ^b   Nordenskjöld, Magnus ^a   Henter, Jan Inge ^a   Bryceson, Yenan T ^a,c  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^c UNIVERSITY OF BERGEN   (Norway)

Author keywords

Deep intronic mutation; Familial haemophagocytic lymphohistiocytosis; NK cells; T cells; UNC13D (Munc13 4)

Indexed keywords

CD16 ANTIGEN; CD3 ANTIGEN; COMPLEMENTARY DNA; FC RECEPTOR; GENOMIC DNA; T LYMPHOCYTE RECEPTOR;

CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOTOXIC T LYMPHOCYTE; DEGRANULATION; FEMALE; FUNCTIONAL ASSESSMENT; GENE; GENETIC ANALYSIS; HEMOPHAGOCYTIC SYNDROME; HUMAN; HUMAN CELL; INTRON; LETTER; MALE; MISSENSE MUTATION; NATURAL KILLER CELL MEDIATED CYTOTOXICITY; PRIORITY JOURNAL; PROTEIN STABILITY; REAL TIME POLYMERASE CHAIN REACTION; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; UNC13D GENE; WESTERN BLOTTING;

DEEP INTRONIC MUTATION; FAMILIAL HAEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; NK CELLS; T CELLS; UNC13D (MUNC13-4);

ADOLESCENT; BASE SEQUENCE; CHILD; HUMANS; INTRONS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; PEDIGREE;

EID: 84880311080     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/bjh.12371     Document Type: Letter

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