Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Standard
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. / Sieni, Elena; Cetica, Valentina; Santoro, Alessandra; Beutel, Karin; Mastrodicasa, Elena; Meeths, Marie; Ciambotti, Benedetta; Brugnolo, Francesca; Zur Stadt, Udo; Pende, Daniela; Moretta, Lorenzo; Griffiths, Gillian M; Henter, Jan-Inge; Janka-Schaub, Gritta; Aricò, Maurizio.
In: J MED GENET, Vol. 48, No. 5, 5, 2011, p. 343-352.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Harvard
APA
Vancouver
Bibtex
}
RIS
TY - JOUR
T1 - Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
AU - Sieni, Elena
AU - Cetica, Valentina
AU - Santoro, Alessandra
AU - Beutel, Karin
AU - Mastrodicasa, Elena
AU - Meeths, Marie
AU - Ciambotti, Benedetta
AU - Brugnolo, Francesca
AU - Zur Stadt, Udo
AU - Pende, Daniela
AU - Moretta, Lorenzo
AU - Griffiths, Gillian M
AU - Henter, Jan-Inge
AU - Janka-Schaub, Gritta
AU - Aricò, Maurizio
PY - 2011
Y1 - 2011
N2 - Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898).
AB - Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898).
KW - Humans
KW - Male
KW - Female
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - Genotype
KW - Infant
KW - Infant, Newborn
KW - Phenotype
KW - Age of Onset
KW - Mutation/genetics
KW - Cell Degranulation/genetics/immunology
KW - Cytotoxicity, Immunologic/genetics/immunology
KW - Gene Order
KW - Genetic Association Studies
KW - Killer Cells, Natural/physiology
KW - Lymphohistiocytosis, Hemophagocytic/genetics/immunology
KW - Membrane Proteins/genetics
KW - Humans
KW - Male
KW - Female
KW - Adolescent
KW - Child
KW - Child, Preschool
KW - Genotype
KW - Infant
KW - Infant, Newborn
KW - Phenotype
KW - Age of Onset
KW - Mutation/genetics
KW - Cell Degranulation/genetics/immunology
KW - Cytotoxicity, Immunologic/genetics/immunology
KW - Gene Order
KW - Genetic Association Studies
KW - Killer Cells, Natural/physiology
KW - Lymphohistiocytosis, Hemophagocytic/genetics/immunology
KW - Membrane Proteins/genetics
M3 - SCORING: Journal article
VL - 48
SP - 343
EP - 352
JO - J MED GENET
JF - J MED GENET
SN - 0022-2593
IS - 5
M1 - 5
ER -