Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene.

Abstract excerpt

By single strand conformational polymorphism, nucleotide sequencing and enzyme restriction, we analyzed the protein S alpha gene in 17 protein S-deficient probands and in their available family members. The relationship between genotype and phenotype was also evaluated. Twelve different sequence variations were identified in 17 probands. Ten were putative causal mutations distributed in 16 probands: 4 were...

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