Found: 10
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A missense mutation (Cys↑Tyr) and two neutral dimorphisms (His and Ser) in the human coagulation factor VII gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1055
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- Publication type:
- Article
In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 5, p. 545
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- Publication type:
- Article
Molecular defects in CRM+ factor VII deficiencies: modelling of missense mutations in the catalytic domain of FVII.
- Published in:
- British Journal of Haematology, 1994, v. 86, n. 3, p. 610, doi. 10.1111/j.1365-2141.1994.tb04793.x
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- Article
Study of a protein S gene polymorphism at DNA and mRNA level in a family with symptomatic protein S deficiency.
- Published in:
- British Journal of Haematology, 1993, v. 85, n. 1, p. 173, doi. 10.1111/j.1365-2141.1993.tb08662.x
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- Article
Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381 → Ser) in the substrate-binding pocket.
- Published in:
- British Journal of Haematology, 1993, v. 84, n. 2, p. 285, doi. 10.1111/j.1365-2141.1993.tb03066.x
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- Publication type:
- Article
Rapid detection of a protein C gene mutation present in the asymptomatic and not in the thrombosis-prone lineage.
- Published in:
- British Journal of Haematology, 1992, v. 81, n. 2, p. 277, doi. 10.1111/j.1365-2141.1992.tb08220.x
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- Article
Characterization of the pseudogenic and genic homologous regions of von Willebrand factor.
- Published in:
- British Journal of Haematology, 1991, v. 78, n. 1, p. 71, doi. 10.1111/j.1365-2141.1991.tb04385.x
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- Publication type:
- Article
Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene.
- Published in:
- British Journal of Haematology, 1990, v. 74, n. 3, p. 282, doi. 10.1111/j.1365-2141.1990.00234.x-i1
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- Publication type:
- Article
A recurrent missense mutation (Arg → Gln) and a partial deletion in factor VIII gene causing severe haemophilia A.
- Published in:
- British Journal of Haematology, 1989, v. 71, n. 2, p. 271, doi. 10.1111/j.1365-2141.1989.tb04266.x
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- Article
Von Willebrand disease investigated by two novel RFLPs.
- Published in:
- British Journal of Haematology, 1988, v. 68, n. 2, p. 243, doi. 10.1111/j.1365-2141.1988.tb06196.x
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- Publication type:
- Article