The first case report of a patient with coexisting hemophilia B and Down syndrome.
作者信息
Rastogi Pulkit, Kumar Narender, Ahluwalia Jasmina, Das Reena, Panigrahi Inusha
机构信息
Department of Hematology, Postgraduate Institute of Medical Education & Research, Sector 12, Chandigarh, India.
Department of Paediatric Medicine, Postgraduate Institute of Medical Education & Research, Sector 12, Chandigarh, India.
出版信息
Blood Res. 2017 Mar;52(1):75-76. doi: 10.5045/br.2017.52.1.75. Epub 2017 Mar 27.
Abstract
摘要
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本文引用的文献
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Hemophilia B: molecular pathogenesis and mutation analysis.血友病B：分子发病机制与突变分析
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An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B.一个用于人类凝血因子 IX 的交互式突变数据库，为血友病 B 的表型和遗传学提供了新的见解。
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Haemophilia A associated with Down's syndrome.与唐氏综合征相关的甲型血友病。
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Hematopoietic disorders in Down syndrome.唐氏综合征中的造血系统疾病。
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Molecular pathology of haemophilia B: identification of five novel mutations including a LINE 1 insertion in Indian patients.乙型血友病的分子病理学：在印度患者中鉴定出五个新突变，包括一个LINE 1插入突变
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Hematological abnormalities in newborn infants with Down syndrome.唐氏综合征新生儿的血液学异常
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[Hemophilia A associated with Down's syndrome].[与唐氏综合征相关的甲型血友病]
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