Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.
about
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.Familial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Advances in the pathogenesis of primary and secondary haemophagocytic lymphohistiocytosis: differences and similarities.The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.Novel UNC13D intronic variant disrupting a NFκB enhancer in a patient with recurrent macrophage activation syndrome and systemic juvenile idiopathic arthritis.
P2860
Q33702959-84637C70-9783-4847-87FA-DADF3B186CC3Q36385688-58D1DC57-725A-4B5E-B21E-30BAE56CFB0BQ36923473-F5111C6C-0A70-4F26-A13D-A9010EC6A184Q37719014-5EE53E1F-9057-4E85-AFFA-32F6B5F802BAQ38855501-D0BC1B36-E84D-407F-8627-D30622E2EEFEQ46726634-541FC964-D25F-472B-891F-F46DEBF92421Q48311424-5CC1BFF8-811A-4163-992F-BBA2F43B15C6Q50159971-34932A6E-C2EA-4C8C-8414-AA5FB9FC056F
P2860
Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.
description
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name
Novel deep intronic and missen ...... ic lymphohistiocytosis type 3.
@en
Novel deep intronic and missen ...... ic lymphohistiocytosis type 3.
@nl
type
label
Novel deep intronic and missen ...... ic lymphohistiocytosis type 3.
@en
Novel deep intronic and missen ...... ic lymphohistiocytosis type 3.
@nl
prefLabel
Novel deep intronic and missen ...... ic lymphohistiocytosis type 3.
@en
Novel deep intronic and missen ...... ic lymphohistiocytosis type 3.
@nl
P2093
P2860
P50
P356
P1476
Novel deep intronic and missen ...... ic lymphohistiocytosis type 3.
@en
P2093
Heinrich Schlums
Marie Meeths
Mei-Yoke Chan
Miriam Entesarian
Samuel C C Chiang
Shui-Yen Soh
Soe-Nwe Mya
P2860
P304
P356
10.1111/BJH.12371
P407
P577
2013-05-14T00:00:00Z