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PROTEIN S HEERLEN

MedGen UID:
855503
•Concept ID:
C3890030
•
Finding
OMIM®: 176880

Recent clinical studies

Etiology

A Case of a Pediatric Patient With Protein S Heerlen Polymorphism and Deep Venous Thrombosis.
Kacar M, Bhatt M
J Pediatr Hematol Oncol 2022 Mar 1;44(2):e442-e443. doi: 10.1097/MPH.0000000000002299. PMID: 34486549
Direct anticoagulant activity of protein S-C4b binding protein complex in Heerlen heterozygotes and normals.
Heeb MJ, Koenen RR, Fernández JA, Hackeng TM
J Thromb Haemost 2004 Oct;2(10):1766-73. doi: 10.1111/j.1538-7836.2004.00901.x. PMID: 15456488
The Ser460Pro mutation in recombinant protein S Heerlen does not affect its APC-cofactor and APC-independent anticoagulant activities.
Koenen RR, Gomes L, Tans G, Rosing J, Hackeng TM
Thromb Haemost 2004 Jun;91(6):1105-14. doi: 10.1160/TH04-02-0082. PMID: 15175796
Deficient APC-cofactor activity of protein S Heerlen in degradation of factor Va Leiden: a possible mechanism of synergism between thrombophilic risk factors.
Giri TK, Yamazaki T, Sala N, Dahlbäck B, de Frutos PG
Blood 2000 Jul 15;96(2):523-31. PMID: 10887114
Absence of linkage between type III protein S deficiency and the PROS1 and C4BP genes in families carrying the protein S Heerlen allele.
Espinosa-Parrilla Y, Morell M, Souto JC, Borrell M, Heine-Suñer D, Tirado I, Volpini V, Estivill X, Sala N
Blood 1997 Apr 15;89(8):2799-806. PMID: 9108398

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