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. 1990 Sep 25;18(18):5575. doi: 10.1093/nar/18.18.5575

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

D B Demers ¹, S J Odelberg ¹, L M Fisher ¹

PMCID: PMC332266 PMID: 2216751

Abstract

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

Bertina R. M., van der Linden I. K. Factor IX Deventer-evidence for the heterogeneity of hemophilia BM. Thromb Haemost. 1982 Apr 30;47(2):136–140. [PubMed] [Google Scholar]
Huang M. N., Kasper C. K., Roberts H. R., Stafford D. W., High K. A. Molecular defect in factor IXHilo, a hemophilia Bm variant: Arg----Gln at the carboxyterminal cleavage site of the activation peptide. Blood. 1989 Feb 15;73(3):718–721. [PubMed] [Google Scholar]
Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics. 1989 Nov;5(4):874–879. doi: 10.1016/0888-7543(89)90129-8. [DOI] [PubMed] [Google Scholar]
Saiki R. K., Gelfand D. H., Stoffel S., Scharf S. J., Higuchi R., Horn G. T., Mullis K. B., Erlich H. A. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988 Jan 29;239(4839):487–491. doi: 10.1126/science.2448875. [DOI] [PubMed] [Google Scholar]
Suehiro K., Kawabata S., Miyata T., Takeya H., Takamatsu J., Ogata K., Kamiya T., Saito H., Niho Y., Iwanaga S. Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase. J Biol Chem. 1989 Dec 15;264(35):21257–21265. [PubMed] [Google Scholar]
Yoshitake S., Schach B. G., Foster D. C., Davie E. W., Kurachi K. Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry. 1985 Jul 2;24(14):3736–3750. doi: 10.1021/bi00335a049. [DOI] [PubMed] [Google Scholar]

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