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Article

Clinical phenotypes, ALK1 gene mutation and level of related plasma proteins in Chinese hereditary hemorrhagic telangiectasia.

Chinese medical journal - 1 Jun 2004

Zhang Guang-sen, Yi Yan, Peng Hong-ling, Shen Jian-kai, Xie Ding-hua, He Xiang-bo

Abstract excerpt

BACKGROUND: We determined the diagnosis of hereditary hemorrhagic telangiectasis (HHT) in a suspected HHT family, identified ALK1 gene mutation and established a gene diagnosis method of HHT. The level of related plasma proteins (transforming growth factor beta and thrombomodulin) were also analyzed. METHODS: Bleeding history and family history were collected; Dilatant nasal mucosal capillaries in proband were...

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PMID: 15198877

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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