Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis type 3
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis type 3
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Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
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Publisher
London: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundMutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898).ObjectiveTo carry out a genotype–phenotype study of patients with FHL3.MethodsA consortium of three countries pooled data on presenting features and mutations from individual patients with biallelic UNC13D mutations in a common da...
Alternative Titles
Full title
Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis type 3
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Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_546628
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_546628
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2010.085456
