6 research outputs found

    Genetic alterations and pathways in patients with Hereditary Angioedema of Unknown Cause (U-HAE)

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    Objective: Hereditary angioedema ( HAE) with normal C1 inhibitor (HAE-nC1-INH), is a genetically complex, rare disease and mutations in F12, ANGPT1, PLG, MYOF genes are found in some families with HAE-nC1-INH. However, often a specific mutation cannot be identified and this type is called as hereditary angioedema of unknown cause (U-HAE). Our aim was to identify putative causative genetic alterations and/or pathways by whole exome sequencing in patients with U-HAE
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