A NOVEL MUTATION OF FBN1 GENE ASSOCIATED WITH MARFAN'S SYNDROME IN A CHINESE FAMILY

来源 :第二十四届长城国际心脏病学会议、亚太心脏大会暨国际心血管病预防与康复会议(The 24th Great Wall Int | 被引量 : 0次 | 上传用户:efox_5
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Objectives To describe a novel mutation in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS).Methods It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS.
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