Literature DB >> 9016521

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

F Giannelli1, 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.   

Abstract

The seventh 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 1535 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, presence of inhibitor and origin of mutation. References to published mutations are given and the laboratories generating the data are indicated.

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Year:  1997        PMID: 9016521      PMCID: PMC146360          DOI: 10.1093/nar/25.1.133

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


  18 in total

1.  Haemophilia B: database of point mutations and short additions and deletions--second edition.

Authors:  F Giannelli; P M Green; K A High; S Sommer; D P Lillicrap; M Ludwig; K Olek; P H Reitsma; M Goossens; A Yoshioka
Journal:  Nucleic Acids Res       Date:  1991-04-25       Impact factor: 16.971

2.  Key residues involved in calcium-binding motifs in EGF-like domains.

Authors:  P A Handford; M Mayhew; M Baron; P R Winship; I D Campbell; G G Brownlee
Journal:  Nature       Date:  1991-05-09       Impact factor: 49.962

3.  Glutamate panorama.

Authors:  L Trussell
Journal:  Science       Date:  1992-07-10       Impact factor: 47.728

4.  Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).

Authors:  S Yoshitake; B G Schach; D C Foster; E W Davie; K Kurachi
Journal:  Biochemistry       Date:  1985-07-02       Impact factor: 3.162

5.  X-ray structure of clotting factor IXa: active site and module structure related to Xase activity and hemophilia B.

Authors:  H Brandstetter; M Bauer; R Huber; P Lollar; W Bode
Journal:  Proc Natl Acad Sci U S A       Date:  1995-10-10       Impact factor: 11.205

6.  The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene.

Authors:  R P Ketterling; E Vielhaber; S S Sommer
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

7.  Synergy between transcription factors DBP and C/EBP compensates for a haemophilia B Leyden factor IX mutation.

Authors:  D J Picketts; D P Lillicrap; C R Mueller
Journal:  Nat Genet       Date:  1993-02       Impact factor: 38.330

8.  Activation peptide of human factor IX has oligosaccharides O-glycosidically linked to threonine residues at 159 and 169.

Authors:  K L Agarwala; S Kawabata; T Takao; H Murata; Y Shimonishi; H Nishimura; S Iwanaga
Journal:  Biochemistry       Date:  1994-05-03       Impact factor: 3.162

9.  Transcriptional regulation of the human factor IX promoter by the orphan receptor superfamily factor, HNF4, ARP1 and COUP/Ear3.

Authors:  H Naka; G G Brownlee
Journal:  Br J Haematol       Date:  1996-01       Impact factor: 6.998

10.  A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.

Authors:  C D Bottema; D D Koeberl; R P Ketterling; E J Bowie; S A Taylor; D Lillicrap; A Shapiro; G Gilchrist; S S Sommer
Journal:  Br J Haematol       Date:  1990-06       Impact factor: 6.998

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  2 in total

1.  Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B.

Authors:  F Giannelli; T Anagnostopoulos; P M Green
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  Haemophilia B: database of point mutations and short additions and deletions--eighth edition.

Authors:  F Giannelli; P M Green; S S Sommer; M Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; M S Figueiredo; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1998-01-01       Impact factor: 16.971

  2 in total

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