Article
Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.
Human mutation - 1 Jan 1999
Montejo J M, Magallón M, Tizzano E, Solera J
Abstract excerpt
In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. It included single-strand conformation polymorphism (SSCP) analysis of all functional regions of the gene and further sequencing of all fragments showing abnormal migration. In 76 patients (90.4%), it was possible to identify molecular alterations leading to the appearance of the disease. Twenty-one new mutations...
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