Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea
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Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency.Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registryComparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis.Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.Clinical features, genetics, and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in Korea: report of a nationwide survey from Korea Histiocytosis Working Party.Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Korean Infant With Compound Heterozygous PRF1 Defects Involving a PRF1 Mutation, c.1091T>G.First report on familial hemophagocytic lymphohistiocytosis with an abnormal immunophenotype and T cell monoclonality in Korea.Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.A Case of Recurrent Pregnancy-Induced Adult Onset Familial Hemophagocytic Lymphohistiocytosis
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Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea
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scientific article published on 24 November 2012
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wetenschappelijk artikel
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name
Founder effects in two predomi ...... ohistiocytosis (FHL3) in Korea
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Founder effects in two predomi ...... ohistiocytosis (FHL3) in Korea
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type
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Founder effects in two predomi ...... ohistiocytosis (FHL3) in Korea
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Founder effects in two predomi ...... ohistiocytosis (FHL3) in Korea
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prefLabel
Founder effects in two predomi ...... ohistiocytosis (FHL3) in Korea
@en
Founder effects in two predomi ...... ohistiocytosis (FHL3) in Korea
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P2093
P2860
P1433
P1476
Founder effects in two predomi ...... ohistiocytosis (FHL3) in Korea
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P2093
Bo-Eun Kim
Chuhl-Joo Lyu
Dong Kyun Han
Hee Young Shin
Hee-Jin Kim
Ho Joon Im
Hong Hoe Koo
Hyo-Seop Ahn
Hyoung Jin Kang
P2860
P304
P356
10.1007/S00277-012-1628-6
P407
P50
P577
2012-11-24T00:00:00Z