Literature DB >> 7937052

Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.

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

Abstract

The fifth 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 < 30bp) identified in haemophilia B patients. The 1,142 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.

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Year:  1994        PMID: 7937052      PMCID: PMC308314          DOI: 10.1093/nar/22.17.3534

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


  104 in total

1.  Automatic enzymatic-fluorimetric determination of ethanol in blood by flow injection analysis.

Authors:  A Fernández Gomez; J Ruz Polonio; M D Luque de Castro; M Valcárcel Cases
Journal:  Clin Chim Acta       Date:  1985-05-30       Impact factor: 3.786

2.  Hypocalcemia and osteomalacia associated with anticonvulsant therapy.

Authors:  B Frame
Journal:  Ann Intern Med       Date:  1971-02       Impact factor: 25.391

3.  Characterization of factor IX defects in hemophilia B patients.

Authors:  A R Thompson; S H Chen
Journal:  Methods Enzymol       Date:  1993       Impact factor: 1.600

4.  Haemophilia B Liverpool: a new British family with mild haemophilia B associated with a -6 G to A mutation in the factor IX promoter.

Authors:  K M Stowell; M S Figueiredo; G G Brownlee; P Jones; P H Bolton-Maggs
Journal:  Br J Haematol       Date:  1993-09       Impact factor: 6.998

5.  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

6.  Mutation detection by fluorescent chemical cleavage: application to hemophilia B.

Authors:  I I Haris; P M Green; D R Bentley; F Giannelli
Journal:  PCR Methods Appl       Date:  1994-04

7.  The rates and patterns of deletions in the human factor IX gene.

Authors:  R P Ketterling; E L Vielhaber; T J Lind; E C Thorland; S S Sommer
Journal:  Am J Hum Genet       Date:  1994-02       Impact factor: 11.025

8.  Detection of a molecular defect in 40 of 44 patients with haemophilia B by PCR and denaturing gradient gel electrophoresis.

Authors:  M Tartary; D Vidaud; Y Piao; J M Costa; B R Bahnak; E Fressinaud; B Congard; Y Laurian; D Meyer; J M Lavergne
Journal:  Br J Haematol       Date:  1993-08       Impact factor: 6.998

9.  First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres.

Authors:  S Saad; G Rowley; L Tagliavacca; P M Green; F Giannelli
Journal:  Thromb Haemost       Date:  1994-05       Impact factor: 5.249

10.  Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145.

Authors:  C M Noyes; M J Griffith; H R Roberts; R L Lundblad
Journal:  Proc Natl Acad Sci U S A       Date:  1983-07       Impact factor: 11.205

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  9 in total

1.  The EMBL Nucleotide Sequence Database.

Authors:  G Stoesser; P Sterk; M A Tuli; P J Stoehr; G N Cameron
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

2.  Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D).

Authors:  A Carrié; F Piccolo; F Leturcq; C de Toma; K Azibi; C Beldjord; J M Vallat; L Merlini; T Voit; C Sewry; J A Urtizberea; N Romero; F M Tomé; M Fardeau; Y Sunada; K P Campbell; J C Kaplan; M Jeanpierre
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  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

4.  A general database for DNA sequence changes induced by mutagenesis of several bacterial and mammalian genes.

Authors:  F Hutchinson; J E Donnellan
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

5.  The European Bioinformatics Institute (EBI) databases.

Authors:  P Rodriguez-Tomé; P J Stoehr; G N Cameron; T P Flores
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

6.  gamma-Carboxyglutamic acids 36 and 40 do not contribute to human factor IX function.

Authors:  S Gillis; B C Furie; B Furie; H Patel; M C Huberty; M Switzer; W B Foster; H A Scoble; M D Bond
Journal:  Protein Sci       Date:  1997-01       Impact factor: 6.725

7.  A two-step recognition of signal sequences determines the translocation efficiency of proteins.

Authors:  D Belin; S Bost; J D Vassalli; K Strub
Journal:  EMBO J       Date:  1996-02-01       Impact factor: 11.598

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

Authors:  F Giannelli; P M Green; S S Sommer; M C Poon; M Ludwig; R Schwaab; P H Reitsma; M Goossens; A Yoshioka; G G Brownlee
Journal:  Nucleic Acids Res       Date:  1996-01-01       Impact factor: 16.971

9.  Functional role of residue 193 (chymotrypsin numbering) in serine proteases: influence of side chain length and beta-branching on the catalytic activity of blood coagulation factor XIa.

Authors:  Amy E Schmidt; Mao-fu Sun; Taketoshi Ogawa; S Paul Bajaj; David Gailani
Journal:  Biochemistry       Date:  2008-01-11       Impact factor: 3.162

  9 in total

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