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Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families

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Overview

This study will examine genes involved in the vascular dysplasia Hereditary haemorrhagic telangiectasia i(HHT)

Description

Hereditary haemorrhagic telangiectasia (HHT) is a condition inherited as an autosomal dominant trait. Sequencing DNA from affected and unaffected family members allows us to identify disease-causal genes. Sequencing these genes allows us to identify what the precise DNA variants are which are causing disease, particularly if linked to functional assays in separate studies.

Eligibility

Inclusion Criteria:

  • Member of family affected by HHT

Exclusion Criteria:

  • Unable or unwilling to provide informed consent for DNA sample

Study details
    Telangiectasia
    Hereditary Hemorrhagic

NCT00230620

Imperial College London

27 January 2024

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