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  • Title: First frameshift mutation in the active protein S gene associated with a quantitative hereditary deficiency.
    Author: Borgel D, Gandrille S, Gouault-Heilmann M, Aiach M.
    Journal: Blood Coagul Fibrinolysis; 1994 Aug; 5(4):593-600. PubMed ID: 7841316.
    Abstract:
    The authors used a strategy combining the amplification-refractory mutations system (ARMS) and denaturing gradient gel electrophoresis (DGGE) to screen the active protein S (PS) gene in a family with PS deficiency, and found a frameshift mutation in exon V. The protein, if expressed, would have an aberrant amino acid sequence from positions 82 to 90 and a premature stop codon in position 91. The mutation co-segregated with the deficient phenotype and was not found in 120 normal chromosomes. It is proposed that the deletion of a T in the codon corresponding to Pro 82 described here is responsible for the deficient phenotype.
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