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MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2019-Jan-01 , DOI: 10.1038/s41436-018-0038-0
Stephanie E Wallace 1 , Ellen S Regalado 1 , Limin Gong 1 , Alexandra L Janda 1 , Dong-Chuan Guo 1 , Claudio F Russo 2 , Richard J Kulmacz 1 , Nadine Hanna 3, 4, 5 , Guillaume Jondeau 4, 5 , Catherine Boileau 3, 4, 5 , Pauline Arnaud 3, 4, 5 , Kwanghyuk Lee 6 , Suzanne M Leal 6 , Matias Hannuksela 7 , Bo Carlberg 8 , Tami Johnston 9 , Christian Antolik 9 , Ellen M Hostetler 1 , Roberto Colombo 10, 11 , Dianna M Milewicz 1
Affiliation  

Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLK missense variants are pathogenic and information to guide aortic disease management are limited.

中文翻译:

MYLK 致病性变异主动脉疾病的表现、妊娠风险和致病性错义变异的表征。

遗传性胸主动脉疾病可能由编码肌球蛋白轻链激酶 (MLCK) 的 MYLK 中的无效变异引起。关于 MYLK 错义变异是致病性的数据和指导主动脉疾病管理的信息是有限的。
更新日期:2018-06-20
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