A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis

A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis

A novel homozygous CCC---CTC (Pro 247---Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition...

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Veröffentlicht in:Human genetics 1992-08, Vol.89 (6), p.683-684
Hauptverfasser: GRUNDY, C. B, CHISHOLM, M, KAKKAR, V. V, COOPER, D. N
Format: Artikel
Sprache:eng
Schlagworte:
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
Homozygote
Humans
Medical sciences
Molecular Sequence Data
Mutation - genetics
Pedigree
Polymerase Chain Reaction
Protein C - genetics
Recurrence
Thrombophlebitis - genetics
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Beschreibung
Zusammenfassung:A novel homozygous CCC---CTC (Pro 247---Leu) substitution was detected in the protein C genes of a patient, born to consanguineous parents, with inherited type 1 protein C deficiency and recurrent venous thrombosis. Since one of four heterozygous relatives was also clinically affected, the condition appears to be inherited as an incompletely recessive trait in this family.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00221963