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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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RNAseq of peripheral blood mononuclear cells from related Hyperimmunoglobinemia D patients presenting with different phenotypes

ABSTRACT: The aim of this study was to understand why two siblings carrying both the same homozygous causal mutation for the auto-inflammatory disease hyper IgD syndrome show opposite phenotypes, i.e. the first being asymptomatic, the second presenting all classical characteristics of the disease.

INSTRUMENT(S): AB 5500xl Genetic Analyzer

ORGANISM(S): Homo sapiens

SUBMITTER: Raphael Carapito

PROVIDER: E-MTAB-6563 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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