[Mutation of the activin receptor-like kinase 1(ALK1) gene and the expression of plasma thrombomodulin in type-2 hereditary hemorrhagic telangiectasia: a study of a Chinese family].

Abstract excerpt

OBJECTIVE: To analysis and define the clinical phenotype and related mutation of hereditary hemorrhagic telangiectasia. (HHT). METHODS: The proband of a Chinese HHT family, female, aged 48, and 2 of her family members: her father, aged 74, and her brother, aged 44 underwent nasal cavity endoscopy and automatic photochonography to observe the capillaries in nasal mucosa. Samples of peripheral blood were collected....

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