Type I antithrombin deficiency due to 13389G deletion in antithrombin gene / 中华血液学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the gene mutation of a kindred with type I antithrombin deficiency.</p><p><b>METHODS</b>All of the seven exons and intron-exon boundaries of antithrombin gene were analysed by PCR and direct sequencing of amplified PCR products from the propositus.</p><p><b>RESULTS</b>A 13389G deletion in exon 6 was characterized in propositus, and this mutation led to frameshift.</p><p><b>CONCLUSION</b>This is a novel mutation, which can cause antithrombin deficiency and thrombosis.</p>