A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency.

doi:10.1046/j.1365-2141.1997.3883202.x

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Article

A hitherto unknown splice site defect in the protein S gene (PROS1): the mutation results in allelic exclusion and causes type I and type III protein S deficiency.

British journal of haematology - 1 Nov 1997

Mustafa S, Pabinger I, Vàradi K, Halbmayer W M, Lechner K, Schwarz H P, Fischer M, Mannhalter C

Abstract excerpt

A hitherto unknown splice site mutation, in the splice acceptor of intron B (tctag to tctgg), was identified in a symptomatic patient with type III protein S deficiency. The mutation co-segregated with type I/III protein S deficiency in the patient's family. RNA analysis showed allelic exclusion...

Topics

Humans
Introns
Loss of Heterozygosity
Male
Middle Aged
Mutation
Pedigree
Protein S Deficiency
Thrombophilia

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