Article
Five novel mutations of the protein S active gene (PROS 1) in 8 Norman families.
Thrombosis and haemostasis - 1 Mar 1996
Duchemin J, Borg J Y, Borgel D, Vasse M, Lévèque H, Aiach M, Gandrille S
Abstract excerpt
To further elucidate the molecular basis for hereditary thrombophilia, we screened the protein S active gene in 11 families with type I deficiency, using a strategy based on denaturing gradient gel electrophoresis (DGGE) of all the coding sequences. Fragments with an abnormal DGGE pattern were sequenced, and 5 novel mutations were identified in 8 families. The mutations were a 7-nucleotide deletion in exon II, a...
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