Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene.

The structure of the gene for protein C, an anticoagulant serine protease, was analyzed in 29 unrelated patients with hereditary thrombophilia and protein C deficiency. Gene deletion(s) or gross rearrangement(s) was not demonstrable by Southern blot hybridization to cDNA probes. However, two unrelat...

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Bibliografiske detaljer
Main Authors: Romeo, G, Hassan, H J, Staempfli, S, Roncuzzi, L, Cianetti, L, Leonardi, A, Vicente, V, Mannucci, P M, Bertina, R, Peschle, C
Format: Artigo
Sprog:Inglês
Udgivet: 1987
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC304753/
https://ncbi.nlm.nih.gov/pubmed/2437584
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