MYLKpathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

Autor:	Wallace, Stephanie E., Regalado, Ellen S., Gong, Limin, Janda, Alexandra L., Guo, Dong-chuan, Russo, Claudio F., Kulmacz, Richard J., Hanna, Nadine, Jondeau, Guillaume, Boileau, Catherine, Arnaud, Pauline, Lee, Kwanghyuk, Leal, Suzanne M., Hannuksela, Matias, Carlberg, Bo, Johnston, Tami, Antolik, Christian, Hostetler, Ellen M., Colombo, Roberto, Milewicz, Dianna M.
Zdroj:	Genetics in Medicine; January 2019, Vol. 21 Issue: 1 p144-151, 8p
Abstrakt:	Heritable thoracic aortic disease can result from null variants in MYLK, which encodes myosin light-chain kinase (MLCK). Data on which MYLKmissense variants are pathogenic and information to guide aortic disease management are limited.
Databáze:	Supplemental Index
Externí odkaz:	Zobrazit plný text záznamu Full text from SpringerLink