A NOVEL MISSENSE MUTATION IN EXON-4 OF THE FACTOR-VIII-C GENE RESULTING IN MODERATELY SEVERE HEMOPHILIA-A
- 1 December 1989
- journal article
- research article
- Vol. 74 (8) , 2688-2691
Abstract
A new point mutation due to C .fwdarw. T transition at codon 189 (TCA) of the factor VIII:C gene was found in a Chinese patient with moderately severe hemophilia A. This mutation abolishes the EcoRI site (GAATTC) in exon 4 and can be directly detected by polyacrylamide gel electrophoresis of amplified genomic DNA.This publication has 11 references indexed in Scilit:
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