Identification and characterization of a novel aberrant pattern of intron 1 inversion with concomita

来源 :The 35th World Congress of the International Society of Hema | 被引量 : 0次 | 上传用户：ccll

【摘要】

：

【作者】

：

Guoling You Kun Chi Yeling Lu Qiulan Ding Jing Dai Xiaodong Xi Hongli Wang Xuefeng Wang

【机构】

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State Key Laboratory of Medical Genomics,Shanghai Institute of Hematology,Ruijin Hospital,Shanghai J

【出处】

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The 35th World Congress of the International Society of Hema

【发表日期】

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2014年5期

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Aims Intron 1 inversion (Inv1) is a recurrent causative mutation of haemophilia A (HA) and is responsible for 1-5 ％of severe HA.Inv1 occurs as a result of intrachromosomal homologous recombination between int1h-1 within intron 1 and int1h-2 located in approximately 125 kb telomeric to the F8 gene.

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Identification and characterization of a novel aberrant pattern of intron 1 inversion with concomita

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