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基因突变发生在阿皮卡高性心肌病症中

Michael Arad1, Manual Penas-Lado, Lorenzo Monserrat

  • 1Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.

Circulation
|November 4, 2005
PubMed
概括

萨尔科默蛋白质基因中的遗传突变可以导致角缩,这是高缩性心肌病 (HCM) 的一种变体. 特定的突变,如心脏动蛋白Glu101Lys,始终导致这种独特的HCM形式.

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