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Screening for mutations in the gene encoding factor IX.

作者信息

Nielsen L R, Schwartz M, Scheibel E

机构信息

Department of Pediatrics, Rigshospitalet, Copenhagen, Denmark.

出版信息

J Inherit Metab Dis. 1992;15(3):339-41. doi: 10.1007/BF02435971.

DOI:10.1007/BF02435971
PMID:1357229
Abstract
摘要

相似文献

1
Screening for mutations in the gene encoding factor IX.筛查编码凝血因子IX的基因突变。
J Inherit Metab Dis. 1992;15(3):339-41. doi: 10.1007/BF02435971.
2
Facile and rapid analysis of three DNA polymorphisms within the human factor IX gene using the polymerase chain reaction.
Br J Haematol. 1991 Apr;77(4):559-60. doi: 10.1111/j.1365-2141.1991.tb08626.x.
3
Carrier detection through the use of abnormal deletion junction fragments in a case of haemophilia B involving complete deletion of the factor IX gene.
J Med Genet. 1988 Nov;25(11):779-80. doi: 10.1136/jmg.25.11.779.
4
Direct carrier testing of haemophilia B by SSCP.通过单链构象多态性对乙型血友病进行直接携带者检测。
Clin Lab Haematol. 1994 Mar;16(1):15-20. doi: 10.1111/j.1365-2257.1994.tb00383.x.
5
[Genetic diagnosis in haemophiliacs (haemophilia A, B, carrier)].[血友病患者（甲型血友病、乙型血友病、携带者）的基因诊断]
Rinsho Byori. 1990 Jun;Suppl 85:102-13.
6
Direct carrier detection in hemophilia B kindreds: use of modified primers (mutagenic primers) for enzymatic amplification of the factor IX gene.B型血友病家系中的直接携带者检测：使用修饰引物（诱变引物）对凝血因子IX基因进行酶促扩增。
Thromb Res. 1991 Aug 1;63(3):355-61. doi: 10.1016/0049-3848(91)90138-m.
7
Heteroduplex screening for molecular defects in factor IX genes from haemophilia B families.对B型血友病家族中因子IX基因分子缺陷进行异源双链体筛选。
Br J Haematol. 1995 Feb;89(2):409-12. doi: 10.1111/j.1365-2141.1995.tb03319.x.
8
Detection of the Taq 1 polymorphism of the factor IX gene by P.C.R.通过聚合酶链反应检测凝血因子IX基因的Taq 1多态性
Thromb Res. 1991 Jun 1;62(5):599-601. doi: 10.1016/0049-3848(91)90033-s.
9
An MseI RFLP in the 5' flanking region of the factor IX gene: its use for haemophilia B carrier detection in Caucasian and Thai populations.
Br J Haematol. 1993 May;84(1):101-5. doi: 10.1111/j.1365-2141.1993.tb03031.x.
10
Carrier detection and prenatal diagnosis of hemophilia B with more advanced techniques.采用更先进技术进行B型血友病的携带者检测和产前诊断。
Ann Hematol. 1993 Dec;67(6):289-93. doi: 10.1007/BF01696349.

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Innovative Therapeutic and Delivery Approaches Using Nanotechnology to Correct Splicing Defects Underlying Disease.利用纳米技术纠正疾病潜在剪接缺陷的创新治疗与递送方法。
Front Genet. 2020 Jul 14;11:731. doi: 10.3389/fgene.2020.00731. eCollection 2020.
2
Molecular Analysis of Factor VIII and Factor IX Genes in Hemophilia Patients: Identification of Novel Mutations and Molecular Dynamics Studies.血友病患者中凝血因子 VIII 和凝血因子 IX 基因的分子分析：新突变的鉴定及分子动力学研究
J Clin Med Res. 2017 Apr;9(4):317-331. doi: 10.14740/jocmr2876w. Epub 2017 Feb 21.
3
Haemophilia B (sixth edition): a database of point mutations and short additions and deletions.

本文引用的文献

1
Detection and localization of single base changes by denaturing gradient gel electrophoresis.通过变性梯度凝胶电泳检测和定位单碱基变化
Methods Enzymol. 1987;155:501-27. doi: 10.1016/0076-6879(87)55033-9.
2
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.单碱基对错配中胞嘧啶和胸腺嘧啶与羟胺和四氧化锇的反应性及其在突变研究中的应用
Proc Natl Acad Sci U S A. 1988 Jun;85(12):4397-401. doi: 10.1073/pnas.85.12.4397.
3
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).
B型血友病（第六版）：点突变及短插入和缺失数据库
Nucleic Acids Res. 1996 Jan 1;24(1):103-18. doi: 10.1093/nar/24.1.103.
4
Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994.乙型血友病：点突变及短插入和缺失数据库，第五版，1994年
Nucleic Acids Res. 1994 Sep;22(17):3534-46. doi: 10.1093/nar/22.17.3534.
人凝血因子IX（抗血友病因子B）基因的核苷酸序列。
Biochemistry. 1985 Jul 2;24(14):3736-50. doi: 10.1021/bi00335a049.
4
Molecular pathology of haemophilia B.B型血友病的分子病理学
EMBO J. 1989 Apr;8(4):1067-72. doi: 10.1002/j.1460-2075.1989.tb03474.x.
5
Direct detection of point mutations by mismatch analysis: application to haemophilia B.
Nucleic Acids Res. 1989 May 11;17(9):3347-58. doi: 10.1093/nar/17.9.3347.
6
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.通过凝胶电泳检测人类DNA多态性作为单链构象多态性。
Proc Natl Acad Sci U S A. 1989 Apr;86(8):2766-70. doi: 10.1073/pnas.86.8.2766.
7
Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.
Br J Haematol. 1991 Jul;78(3):390-7. doi: 10.1111/j.1365-2141.1991.tb04453.x.
8
Plasma assay of fetal factors VIIIC and IX for prenatal diagnosis of haemophilia.血浆中胎儿凝血因子VIIIC和IX的检测用于血友病的产前诊断。
Lancet. 1979 Jun 23;1(8130):1309-11. doi: 10.1016/s0140-6736(79)91946-9.