Article
Failure in the detection of aberrant mRNA from the heterozygotic splice site mutant allele for protein S in a patient with protein S deficiency.
Thrombosis research - 1 May 2001
Iida H, Nakahara M, Komori K, Fujise M, Wakiyama M, Urata M, Kinoshita S, Tsuda H, Sugimachi K, Hamasaki N
Abstract excerpt
A 29-year-old male patient with acute arterial obstruction and a medical history including thrombosis in the deep veins and pulmonary infarction presented with a reduced level of both protein S (PS) activity and free PS. Sequencing of the genomic PS gene in this patient revealed that the patient was heterozygous for the mutant PS allele, in which a nucleotide substitution occurred at the donor splice site in...
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