Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.

Article

Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.

Blood - 15 Oct 1993

Lind B, van Solinge W W, Schwartz M, Thorsen S

Abstract excerpt

Heterozygosity for a G-->C mutation converting the highly conserved Gln184 (CAG) to His (CAC) was identified at the last nucleotide of exon 7 of the protein C gene in two family members with deep vein thrombosis. As the nucleotide is a part of the 5 splice site of intron G, it was examined how th...

Topics

Adult
Base Sequence
DNA, Complementary
Exons
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation
Protein C
RNA Splicing
RNA, Messenger
Thrombophlebitis

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