The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
about
Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registryComparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.Genetic defects in cytolysis in macrophage activation syndrome.Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: differences and similarities.Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic.Novel UNC13D intronic variant disrupting a NFκB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis.
P2860
The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
The 253-kb inversion and deep ...... gocytic lymphohistiocytosis 3.
@en
The 253-kb inversion and deep ...... gocytic lymphohistiocytosis 3.
@nl
type
label
The 253-kb inversion and deep ...... gocytic lymphohistiocytosis 3.
@en
The 253-kb inversion and deep ...... gocytic lymphohistiocytosis 3.
@nl
prefLabel
The 253-kb inversion and deep ...... gocytic lymphohistiocytosis 3.
@en
The 253-kb inversion and deep ...... gocytic lymphohistiocytosis 3.
@nl
P2093
P2860
P356
P1476
The 253-kb inversion and deep ...... gocytic lymphohistiocytosis 3.
@en
P2093
Alexandra H Filipovich
Ammar Husami
C Alexander Valencia
Diane Kissell
Jeffery Schubert
Jessica A Connor
Judith A Johnson
Kejian Zhang
Matthew T Weirauch
P2860
P304
P356
10.1002/PBC.24955
P577
2014-01-28T00:00:00Z