Literature DB >> 8594556

Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.

F Giannelli1, P M Green, S S Sommer, M C Poon, M Ludwig, R Schwaab, P H Reitsma, M Goossens, A Yoshioka, G G Brownlee.   

Abstract

The sixth edition of the haemophilia B database lists in easily accessible form all known factor IX mutations due to small changes (base substitutions and short additions and/or deletions of <30 bp) identified in haemophilia B patients. The 1380 patient entries are ordered by the nucleotide number of their mutation. Where known, details are given on factor IX activity, factor IX antigen in circulation and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.

Entities:  

Mesh:

Substances:

Year:  1996        PMID: 8594556      PMCID: PMC145614          DOI: 10.1093/nar/24.1.103

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  112 in total

1.  Two novel point mutations correlate with an altered developmental expression of blood coagulation factor IX (hemophilia B Leyden phenotype).

Authors:  P H Reitsma; T Mandalaki; C K Kasper; R M Bertina; E Briët
Journal:  Blood       Date:  1989-02-15       Impact factor: 22.113

2.  A Dutch pedigree with mild hemophilia B with a missense mutation in the first EGF domain (factor IXOud en Nieuw Gastel).

Authors:  S R Poort; E Briët; R M Bertina; P H Reitsma
Journal:  Nucleic Acids Res       Date:  1989-07-25       Impact factor: 16.971

3.  A Dutch family with moderately severe hemophilia B (factor IXHeerde) has a missense mutation identical to that of factor IX London 2.

Authors:  S R Poort; E Briët; R M Bertina; P H Reitsma
Journal:  Nucleic Acids Res       Date:  1989-05-11       Impact factor: 16.971

4.  A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient.

Authors:  P Aguilar-Martinez; M C Romey; J C Gris; J F Schved; J Demaille; M Claustres
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

5.  Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins.

Authors:  S H Chen; A R Thompson; M Zhang; C R Scott
Journal:  J Clin Invest       Date:  1989-07       Impact factor: 14.808

6.  Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide.

Authors:  M N Huang; C K Kasper; H R Roberts; D W Stafford; K A High
Journal:  Blood       Date:  1989-02-15       Impact factor: 22.113

7.  Hemophilia B carrier determination based on family-specific mutation detection by DNA single-strand conformation analysis.

Authors:  M C Poon; S Anand; B M Fraser; D I Hoar; G D Sinclair
Journal:  J Lab Clin Med       Date:  1993-07

8.  Hemophilia B (Christmas disease) variants and carrier detection analyzed by DNA probes.

Authors:  M C Poon; D H Chui; M Patterson; D M Starozik; L S Dimnik; D I Hoar
Journal:  J Clin Invest       Date:  1987-04       Impact factor: 14.808

9.  Identification of factor IX mutations in haemophilia B: application of polymerase chain reaction and single strand conformation analysis.

Authors:  B M Fraser; M C Poon; D I Hoar
Journal:  Hum Genet       Date:  1992-02       Impact factor: 4.132

10.  Molecular pathology of haemophilia B.

Authors:  P M Green; D R Bentley; R S Mibashan; I M Nilsson; F Giannelli
Journal:  EMBO J       Date:  1989-04       Impact factor: 11.598

View more
  7 in total

1.  A mutation spectra database for bacterial and mammalian genes: 1998.

Authors:  F Hutchinson; J E Donnellan
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

2.  A mutation spectra database for bacterial and mammalian genes.

Authors:  F Hutchinson; J E Donnellan
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

3.  Haemophilia B: database of point mutations and short additions and deletions, 7th edition.

Authors:  F Giannelli; P M Green; S S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; M S Figueiredo; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

4.  The GDB Human Genome Database Anno 1997.

Authors:  K H Fasman; S I Letovsky; P Li; R W Cottingham; D T Kingsbury
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

5.  Polydom: a secreted protein with pentraxin, complement control protein, epidermal growth factor and von Willebrand factor A domains.

Authors:  D Gilgès; M A Vinit; I Callebaut; L Coulombel; V Cacheux; P H Romeo; I Vigon
Journal:  Biochem J       Date:  2000-11-15       Impact factor: 3.857

6.  A mutation in the propeptide of Factor IX leads to warfarin sensitivity by a novel mechanism.

Authors:  K Chu; S M Wu; T Stanley; D W Stafford; K A High
Journal:  J Clin Invest       Date:  1996-10-01       Impact factor: 14.808

Review 7.  The role of epidermal growth factor-like module containing mucin-like hormone receptor 2 in human cancers.

Authors:  Michael Safaee; Michael E Ivan; Michael C Oh; Taemin Oh; Eli T Sayegh; Gurvinder Kaur; Matthew Z Sun; Orin Bloch; Andrew T Parsa
Journal:  Oncol Rev       Date:  2014-04-01
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.