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[Hereditary hemorrhagic telangiectasia caused by mutation in intron 4 of ALK1 gene: analysis of a HTT family].

Zhonghua yi xue za zhi - 23 Jan 2007

Xie Gui-lan, Li Zhi-xiang, Li Zhe-xian

Abstract excerpt

OBJECTIVE: To investigate the molecular pathogenesis of hereditary hemorrhagic telangiectasia (HHT). METHODS: Peripheral blood samples were collected from a HTT family, including the proband, female, aged 48, and her mother, elder brother, elder sister, younger brother, and son. HHT gene mutations were identified by PCR-SSCP and DNA sequencing and confirmed by reverse sequencing. Ectopic transcripts of RT-PCR...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17425869

Genes

HTT

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