Literature DB >> 5420360

The genetic heterogeneity of hemophilia B.

P E Brown, C Hougie, H R Roberts.   

Abstract

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Year:  1970        PMID： 5420360     DOI： 10.1056/NEJM197007092830203

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  12 in total

1.  Replacement of isoleucine-397 by threonine in the clotting proteinase factor IXa (Los Angeles and Long Beach variants) affects macromolecular catalysis but not L-tosylarginine methyl ester hydrolysis. Lack of correlation between the ox brain prothrombin time and the mutation site in the variant proteins.

Authors:  S G Spitzer; B J Warn-Cramer; C K Kasper; S P Bajaj
Journal:  Biochem J       Date:  1990-01-01       Impact factor: 3.857

2.  Hemophilia B+ or Bm. First case reported in Italy.

Authors:  A Girolami; G Cella; G Bareggi
Journal:  Blut       Date:  1973-04

3.  Further studies on factor IX antigen in hemophilia B.

Authors:  A Girolami; A Burul; G Cappellato
Journal:  Blut       Date:  1978-10-13

4.  Factor VIII immunological assay. An evaluation of several methods using whole plasma.

Authors:  A Girolami; A Sticchi; T Barbui; G Bareggi
Journal:  Blut       Date:  1974-11

5.  An immunological investigation of factor VIII associated antigen in combined factor V and factor VIII deficiency.

Authors:  A Girolami; N Borsato; G Patrassi; A Sticchi
Journal:  Blut       Date:  1976-08

6.  Hemophilia B with associated factor VII deficiency: a distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen.

Authors:  A Girolami; R Dal Bo Zanon; L De Marco; G Cappellato
Journal:  Blut       Date:  1980-04

7.  Incidence, significance, and subtypes of hemophilia BM in a large population of hemophilia B patients.

Authors:  A Girolami; R Dal Bo Zanon; P Saltarin; V Quaino; G Altinier; T Ripa; A Marchetti; D Stocco
Journal:  Blut       Date:  1982-01

8.  Cross-reacting material in genetic variants of haemophilia B.

Authors:  D Meyer; E Bidwell; M J Larrieu
Journal:  J Clin Pathol       Date:  1972-05       Impact factor: 3.411

9.  Purification and characterization of an abnormal factor IX (Christmas factor) molecule. Factor IX Chapel Hill.

Authors:  K S Chung; D A Madar; J C Goldsmith; H S Kingdon; H R Roberts
Journal:  J Clin Invest       Date:  1978-11       Impact factor: 14.808

10.  Characterization of three abnormal factor IX variants (Bm Lake Elsinore, Long Beach, and Los Angeles) of hemophilia-B. Evidence for defects affecting the latent catalytic site.

Authors:  P Usharani; B J Warn-Cramer; C K Kasper; S P Bajaj
Journal:  J Clin Invest       Date:  1985-01       Impact factor: 14.808
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