Molecular Studies on Hereditary Haemorrhagic Telangiectasia Families
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Hereditary haemorrhagic telangiectasia is a disease inherited as an autosomal dominant disease. Analysing DNA from affected and unaffected family members allows us to identify the location of disease genes by linkage analysis. Sequencing genes in the interval identified by linkage analysis allows us to identify which precise gene is mutated. Further functional studies can then determine why the mutations in that gene cause the disease.
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Ages Eligible for Study:
Child, Adult, Older Adult
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients with hereditary haemorrhagic telangiectasia and their families
Member of family affected by HHT
Unable or unwilling to provide informed consent for DNA sample