Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B.

Suppr

超能文献

作者信息

Thompson A R, Schoof J M, Weinmann A F, Chen S H

机构信息

Department of Medicine, University of Washington, Seattle.

出版信息

Thromb Res. 1992 Jan 15;65(2):289-95. doi: 10.1016/0049-3848(92)90249-a.

DOI:10.1016/0049-3848(92)90249-a

PMID:1579901

Abstract

摘要

相似文献

Factor IX mutations: rapid, direct screening methods for 20 new families with hemophilia B.

Thromb Res. 1992 Jan 15;65(2):289-95. doi: 10.1016/0049-3848(92)90249-a.

Twenty-five novel mutations of the factor IX gene in haemophilia B.

Hum Mutat. 1995;6(4):346-8. doi: 10.1002/humu.1380060410.

Detection of ten new mutations by screening the gene encoding factor IX of Danish hemophilia B patients.

Thromb Haemost. 1995 May;73(5):774-8.

Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.

Br J Haematol. 1995 Feb;89(2):409-12. doi: 10.1111/j.1365-2141.1995.tb03319.x.

Twenty-four novel hemophilia B mutations revealed by rapid scanning of the whole factor IX gene in a French population sample.

Eur J Hum Genet. 1993;1(2):144-55. doi: 10.1159/000472401.

A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.

Hum Mol Genet. 1993 Aug;2(8):1309-10. doi: 10.1093/hmg/2.8.1309.

T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.

Hum Genet. 1991 Jul;87(3):333-7. doi: 10.1007/BF00200915.

Characterization of factor IX defects in hemophilia B patients.

Methods Enzymol. 1993;222:143-69. doi: 10.1016/0076-6879(93)22011-4.

Splice junction mutations in factor IX gene resulting in severe hemophilia B.

Nucleic Acids Res. 1991 Mar 11;19(5):1172. doi: 10.1093/nar/19.5.1172.

A new hemophilia B mutation in the propeptide region of the FIX gene.

Am J Hematol. 1995 Oct;50(2):144-5. doi: 10.1002/ajh.2830500212.

引用本文的文献

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

Int J Mol Sci. 2020 Dec 11;21(24):9449. doi: 10.3390/ijms21249449.

Molecular Mechanisms and Determinants of Innovative Correction Approaches in Coagulation Factor Deficiencies.

Int J Mol Sci. 2019 Jun 21;20(12):3036. doi: 10.3390/ijms20123036.

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.

Blood. 2017 Apr 20;129(16):2303-2307. doi: 10.1182/blood-2016-09-738641. Epub 2017 Feb 14.

Hemophilia B: molecular pathogenesis and mutation analysis.

J Thromb Haemost. 2015 Jul;13(7):1184-95. doi: 10.1111/jth.12958. Epub 2015 May 18.

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.

Biochemistry. 2008 Feb 5;47(5):1326-35. doi: 10.1021/bi701594j. Epub 2008 Jan 11.

Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa.

Biochem J. 1997 May 1;323 ( Pt 3)(Pt 3):629-36. doi: 10.1042/bj3230629.

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

Nucleic Acids Res. 1996 Jan 1;24(1):103-18. doi: 10.1093/nar/24.1.103.

Haemophilia B: database of point mutations and short additions and deletions--fourth edition, 1993.

Nucleic Acids Res. 1993 Jul 1;21(13):3075-87. doi: 10.1093/nar/21.13.3075.

Recurrent mutations in the factor IX gene: founder effect or repeat de novo events. Investigation of the German haemophilia B population and review of de novo mutations.

Hum Genet. 1993 Aug;92(1):40-8. doi: 10.1007/BF00216143.

Germ line origins of de novo mutations in hemophilia B families.

Hum Genet. 1994 Sep;94(3):299-302. doi: 10.1007/BF00208288.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验