The Ser 460 to Pro substitution of the protein S alpha (PROS1) gene is a frequent mutation associated with free protein S (type IIa) deficiency.

Duchemin, J; Gandrille, S; Borgel, D; Feurgard, P; Alhenc-Gelas, M; Matheron, C; Dreyfus, M; Dupuy, E; Juhan-Vague, I; Aiach, M

Duchemin, J; Gandrille, S; Borgel, D; Feurgard, P; Alhenc-Gelas, M; Matheron, C; Dreyfus, M; Dupuy, E; Juhan-Vague, I; Aiach, M.

Affiliation

Duchemin J; Unité INSERM 428, UFR des Sciences Pharmaceutiques et Biologiques, Université Paris V, France.

Blood ; 86(9): 3436-43, 1995 Nov 01.

Article in En | MEDLINE | ID: mdl-7579448

Subject(s)

Complement Inactivator Proteins; Glycoproteins; Point Mutation; Protein S Deficiency/genetics; Protein S/genetics; Carrier Proteins/metabolism; Codon/genetics; Female; Gene Frequency; Genes; Genetic Predisposition to Disease; Humans; Male; Pedigree; Polymorphism, Genetic; Protein Binding; Protein S/metabolism; Thrombosis/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Complement Inactivator Proteins / Glycoproteins / Protein S / Point Mutation / Protein S Deficiency Type of study: Clinical_trials / Risk_factors_studies Limits: Female / Humans / Male Language: En Journal: Blood Year: 1995 Document type: Article Affiliation country: France Country of publication: United States

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