Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis

Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis

Non-identical missense mutations were identified at Arg 178 in the protein C genes of two patients with heterozygous type 1 protein C deficiency and recurrent venous thrombosis.

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Bibliographische Detailangaben
Veröffentlicht in:Human genetics 1992-08, Vol.89 (6), p.685-686
Hauptverfasser: GRUNDY, C. B, SCHULMAN, S, TENGBORN, L, KAKKAR, V. V, COOPER, D. N
Format: Artikel
Sprache:eng
Schlagworte:
Arginine - genetics
Base Sequence
Biological and medical sciences
Blood and lymphatic vessels
Cardiology. Vascular system
Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous
Exons - genetics
Female
Heterozygote
Humans
Male
Medical sciences
Molecular Sequence Data
Mutation - genetics
Pedigree
Protein C - genetics
Protein C Deficiency
Recurrence
Thrombophlebitis - genetics
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Beschreibung
Zusammenfassung:Non-identical missense mutations were identified at Arg 178 in the protein C genes of two patients with heterozygous type 1 protein C deficiency and recurrent venous thrombosis.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00221964