Identification of three novel mutations in hereditary protein S deficiency.

Article

Identification of three novel mutations in hereditary protein S deficiency.

Thrombosis and haemostasis - 1 Jan 1997

Bustorff T C, Freire I, Gago T, Crespo F, David D

Abstract excerpt

We report the application of single-stranded conformation polymorphism (SSCP) analysis to the screening of 15 functionally important Protein S (PS) gene (PS alpha) regions (4.243 Kb) in 6 unrelated families with PS deficiencies. Direct sequencing of the fragments with altered migration patterns l...

Topics

Alleles
Female
Humans
Male
Pedigree
Point Mutation
Protein S
Protein S Deficiency
RNA, Messenger

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