Literature DB >> 884315

Hemophilia B: characterization of genetic variants and detection of carriers.

C K Kasper, B Osterud, J Y Minami, W Shonick, S I Rapaport.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1977        PMID: 884315

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


× No keyword cloud information.
  16 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.  Activation of factor IX by the reaction product of tissue factor and factor VII: additional pathway for initiating blood coagulation.

Authors:  B Osterud; S I Rapaport
Journal:  Proc Natl Acad Sci U S A       Date:  1977-12       Impact factor: 11.205

3.  Immunoaffinity purification of factor IX (Christmas factor) by using conformation-specific antibodies directed against the factor IX-metal complex.

Authors:  H A Liebman; S A Limentani; B C Furie; B Furie
Journal:  Proc Natl Acad Sci U S A       Date:  1985-06       Impact factor: 11.205

4.  Single nucleotide primer extension to detect genetic diseases: experimental application to hemophilia B (factor IX) and cystic fibrosis genes.

Authors:  M N Kuppuswamy; J W Hoffmann; C K Kasper; S G Spitzer; S L Groce; S P Bajaj
Journal:  Proc Natl Acad Sci U S A       Date:  1991-02-15       Impact factor: 11.205

5.  Application of an intragenic genomic probe to genetic counselling for haemophilia B in the west of Scotland.

Authors:  J M Connor; A F Pettigrew; I M Hann; C D Forbes; G D Lowe; N A Affara
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

6.  Carrier detection of Hemophilia B by using a restriction site polymorphism associated with the coagulation Factor IX gene.

Authors:  L Grunebaum; J P Cazenave; G Camerino; C Kloepfer; J L Mandel; P Tolstoshev; M Jaye; H De la Salle; J P Lecocq
Journal:  J Clin Invest       Date:  1984-05       Impact factor: 14.808

Review 7.  Haemophilia: strategies for carrier detection and prenatal diagnosis.

Authors:  I R Peake; D P Lillicrap; V Boulyjenkov; E Briet; V Chan; E K Ginter; E M Kraus; R Ljung; P M Mannucci; K Nicolaides
Journal:  Bull World Health Organ       Date:  1993       Impact factor: 9.408

8.  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

9.  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

10.  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

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.