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ABSTRACT: To identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia. Genomic DNA was extracted from the peripheral blood of the propositus. All of the exons, intron/exon boundaries and the 5' untranslation regions (UTR) of the ALK-1 and endoglin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing. The mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop. The hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 10/2004; 25(9):536-9.
Zhonghua lao dong wei sheng zhi ye bing za zhi = Zhonghua laodong weisheng zhiyebing zazhi = Chinese journal of industrial hygiene and occupational diseases 05/2004; 22(2):140-1.