Literature DB >> 2216751

Identification of a factor IX point mutation using SSCP analysis and direct sequencing.

D B Demers1, S J Odelberg, L M Fisher.   

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Year:  1990        PMID： 2216751      PMCID： PMC332266          DOI： 10.1093/nar/18.18.5575

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


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  6 in total

1.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction.

Authors:  M Orita; Y Suzuki; T Sekiya; K Hayashi
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

2.  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

3.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

4.  Factor IX Deventer-evidence for the heterogeneity of hemophilia BM.

Authors:  R M Bertina; I K van der Linden
Journal:  Thromb Haemost       Date:  1982-04-30       Impact factor: 5.249

5.  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

6.  Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase.

Authors:  K Suehiro; S Kawabata; T Miyata; H Takeya; J Takamatsu; K Ogata; T Kamiya; H Saito; Y Niho; S Iwanaga
Journal:  J Biol Chem       Date:  1989-12-15       Impact factor: 5.157
  6 in total
  5 in total

1.  Detection of point mutations in human DNA by analysis of RNA conformation polymorphism(s).

Authors:  P V Danenberg; T Horikoshi; M Volkenandt; K Danenberg; H J Lenz; L C Shea; A P Dicker; A Simoneau; P A Jones; J R Bertino
Journal:  Nucleic Acids Res       Date:  1992-02-11       Impact factor: 16.971

2.  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

3.  Fluorescence-based mutation detection. Single-strand conformation polymorphism analysis (F-SSCP).

Authors:  J S Ellison
Journal:  Mol Biotechnol       Date:  1996-02       Impact factor: 2.695

4.  PCR-single-stranded confirmational polymorphism analysis for non-culture-based subtyping of meningococcal strains in clinical specimens.

Authors:  J Newcombe; S Dyer; L Blackman; K Cartwright; W H Palmer; J McFadden; L Blackwell
Journal:  J Clin Microbiol       Date:  1997-07       Impact factor: 5.948

5.  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
  5 in total

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