Three novel PROC gene lesions causing protein C deficiency

P. J. Hallam; P. Mannucci; A. Tripodi; D. Bevan; B. Laursen; L. Tengborn; A. Wacey; D. N. Cooper

Three novel PROC gene lesions causing protein C deficiency

P. J. Hallam, P. Mannucci, A. Tripodi, D. Bevan, B. Laursen, L. Tengborn, A. Wacey, D. N. Cooper

Fondazione IRCCS Ca' Granda- Ospedale Maggiore Policlinico

Research output: Contribution to journal › Article › peer-review

Abstract

Missense mutations, three of them novel (Asn210→Val, Asn248→Ile, Ala355→Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing haemophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded.

Original language	English
Pages (from-to)	231-233
Number of pages	3
Journal	Clinical Genetics
Volume	54
Issue number	3
Publication status	Published - Sept 1998

Keywords

Gene mutations
Protein C deficiency
Venous thrombosis

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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abstract = "Missense mutations, three of them novel (Asn210→Val, Asn248→Ile, Ala355→Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing haemophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded.",

keywords = "Gene mutations, Protein C deficiency, Venous thrombosis",

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AU - Hallam, P. J.

AU - Mannucci, P.

AU - Tripodi, A.

AU - Bevan, D.

AU - Laursen, B.

AU - Tengborn, L.

AU - Wacey, A.

AU - Cooper, D. N.

PY - 1998/9

Y1 - 1998/9

N2 - Missense mutations, three of them novel (Asn210→Val, Asn248→Ile, Ala355→Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing haemophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded.

AB - Missense mutations, three of them novel (Asn210→Val, Asn248→Ile, Ala355→Val), were found in the protein C (PROC) genes of 7 patients with inherited protein C deficiency associated with venous thrombosis. Comparison with the phenotypic effects of mutations in the analogous residues of factor IX causing haemophilia B and the use of molecular modelling has provided explanations as to how these lesions might alter either the structure, function or secretion of the protein C molecules encoded.

KW - Gene mutations

KW - Protein C deficiency

KW - Venous thrombosis

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JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

Three novel PROC gene lesions causing protein C deficiency

Abstract

Keywords

ASJC Scopus subject areas

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