Clinical utility gene card for: haemophilia B.
作者信息
Jenkins Peter Vincent, Keenan Catriona, Keeney Steve, Cumming Tony, O'Donnell James S
机构信息
National Centre for Hereditary Coagulation Disorders, St James's Hospital, Dublin, Ireland.
出版信息
Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.268. Epub 2012 Jan 25.
Abstract
摘要
相似文献
1
Clinical utility gene card for: haemophilia B.
Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.268. Epub 2012 Jan 25.
2
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.
3
Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania.
Hamostaseologie. 2016 Nov 8;36(Suppl. 2):S29-S33.
4
Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.
Br J Haematol. 2000 Nov;111(2):549-51. doi: 10.1046/j.1365-2141.2000.02389.x.
5
A novel nonsense mutation in exon 2 of the factor IX gene resulting in severe haemophilia B.
Intern Emerg Med. 2006;1(4):318-20. doi: 10.1007/BF02934771.
6
Twenty-five novel mutations of the factor IX gene in haemophilia B.
Hum Mutat. 1995;6(4):346-8. doi: 10.1002/humu.1380060410.
7
[Assessment of the diagnosis of the carrier state for haemophilia A and B (author's transl)].
Sangre (Barc). 1978;23(5B):698-707.
8
Unexpected haemophilia despite pre-natal testing - a combined haemophilia A and haemophilia B family.
Br J Haematol. 2017 Oct;179(2):182. doi: 10.1111/bjh.14840. Epub 2017 Jul 5.
9
Hemophilia: a practical approach to genetic testing.
Mayo Clin Proc. 2005 Nov;80(11):1485-99. doi: 10.4065/80.11.1485.
10
Analysis of haemophilia B database and strategies for identification of common point mutations in the factor IX gene.
Haemophilia. 2003 Mar;9(2):187-92. doi: 10.1046/j.1365-2516.2003.00727.x.
引用本文的文献
1
Oral delivery of human biopharmaceuticals, autoantigens and vaccine antigens bioencapsulated in plant cells.
Adv Drug Deliv Rev. 2013 Jun 15;65(6):782-99. doi: 10.1016/j.addr.2012.10.005. Epub 2012 Oct 23.
本文引用的文献
1
A study of variations in the reported haemophilia B prevalence around the world.
Haemophilia. 2012 May;18(3):e91-4. doi: 10.1111/j.1365-2516.2011.02588.x. Epub 2011 Jun 7.
2
Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification.
Transl Res. 2009 Mar;153(3):114-7. doi: 10.1016/j.trsl.2008.12.006. Epub 2009 Jan 27.
3
Preimplantation genetic diagnosis of haemophilia.
Br J Haematol. 2009 Feb;144(3):303-7. doi: 10.1111/j.1365-2141.2008.07391.x. Epub 2008 Nov 22.
4
The UK National External Quality Assessment Scheme (UK NEQAS) for molecular genetic testing in haemophilia.
Thromb Haemost. 2006 Nov;96(5):597-601.
5
Bleeding in carriers of hemophilia.
Blood. 2006 Jul 1;108(1):52-6. doi: 10.1182/blood-2005-09-3879. Epub 2006 Mar 21.
6
The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.
Haemophilia. 2005 Jul;11(4):398-404. doi: 10.1111/j.1365-2516.2005.01112.x.
7
Denaturing HPLC procedure for factor IX gene scanning.
Clin Chem. 2003 May;49(5):815-8. doi: 10.1373/49.5.815.
8
Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations.
Br J Haematol. 2000 Nov;111(2):549-51. doi: 10.1046/j.1365-2141.2000.02389.x.
9
A rapid method for haemophilia B mutation detection using conformation sensitive gel electrophoresis.
Br J Haematol. 1999 Mar;104(4):915-8. doi: 10.1046/j.1365-2141.1999.01274.x.
10
Hemophilia B Leyden: a sex-linked hereditary disorder that improves after puberty.
N Engl J Med. 1982 Apr 1;306(13):788-90. doi: 10.1056/NEJM198204013061306.
Zotero 插件