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[Gene Analysis of A Chinese Family with Hereditary Hemorrhagic Telangiectasia and its Curative Effect of Thalidomide].

Zhongguo shi yan xue ye xue za zhi - 1 Aug 2017

Yu Qian, Cheng Zhao, Yi Yi-Fang, Peng Hong-Ling

Abstract excerpt

OBJECTIVE: To analyze a hereditary hemorrhagic telangiectasia(HHT) family Activin receptor-like kinase 1(ACVRL1), Endoglin (ENG) and Mothers against decapentaplegic homolog 4 (MADH4, SMAD4) gene mutation, meanwhile, to observe the curative effect of thalidomide in treatment of HHT patients. METHODS: The clinical feature of the HHT family was analyzed, the polymerase chain reaction (PCR) combined with Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28823282
DOI: 10.7534/j.issn.1009-2137.2017.04.031

Genes

ACVRL1
ENG
SMAD4

Variants

Provenance

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