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Article

Molecular basis of protein S deficiency in three families also showing independent inheritance of factor V leiden.

Blood - 1 Sept 1996

Beauchamp N J, Daly M E, Cooper P C, Makris M, Preston F E, Peake I R

Abstract excerpt

The molecular basis of type I or III Protein S deficiency has been investigated in three kindred also showing independent inheritance of factor V (FV) Leiden. A T to C transition in codon 570 (Met-->Thr) was identified in the propositi and shown to segregate with protein S deficiency in all but one of the affected members of two kindred. This individual was heterozygous for a second transition (C to T) causing...

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PMID: 8781426

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