Enhanced carrier and prenatal diagnosis in the Italian haemophilia B population.
作者信息
Goodeve Anne
机构信息
Academic Unit of Haematology, University of Sheffield, Sheffield,United Kingdom.
出版信息
Blood Transfus. 2007 Jul;5(3):117-9. doi: 10.2450/2007.0034-07.
Abstract
摘要
相似文献
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本文引用的文献
1
The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis.意大利血友病 B 突变数据库：遗传咨询、携带者检测和产前诊断的工具。
Blood Transfus. 2007 Jul;5(3):158-63. doi: 10.2450/2007.0024-07.
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Molecular genotyping of the Italian cohort of patients with hemophilia B.意大利B型血友病患者队列的分子基因分型
Haematologica. 2005 May;90(5):635-42.
3
Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity.瑞典的血友病B突变：一项基于人群的突变异质性研究。
Br J Haematol. 2001 Apr;113(1):81-6. doi: 10.1046/j.1365-2141.2001.02759.x.
4
Evaluation of DHPLC in the analysis of hemophilia A.变性高效液相色谱法在甲型血友病分析中的应用评估
J Biochem Biophys Methods. 2001 Jan 30;47(1-2):39-51. doi: 10.1016/s0165-022x(00)00150-0.
5
Deep intronic mutations are rarely a cause of hemophilia B.内含子深处的突变很少是乙型血友病的病因。
Hum Mutat. 1999;14(3):267-8. doi: 10.1002/(SICI)1098-1004(1999)14:3<267::AID-HUMU11>3.0.CO;2-I.
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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.凝血因子IX基因的复发性突变：奠基者效应还是反复的从头事件。对德国B型血友病患者群体的调查及对从头突变的综述。
Hum Genet. 1993 Aug;92(1):40-8. doi: 10.1007/BF00216143.
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First report on UK database of haemophilia B mutations and pedigrees. UK Haemophilia Centres.关于英国B型血友病突变与谱系数据库的首份报告。英国血友病中心。
Thromb Haemost. 1994 May;71(5):563-70.
10
Nucleotide sequence of the gene for human factor IX (antihemophilic factor B).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.
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