MYLK Mutations: Aortic Disease Presentation, Pregnancy Risk, and Characterization of Pathogenic Missense Variants

PURPOSE: Heritable thoracic aortic disease (HTAD) 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. METHODS: Clinical data from 33 cases with MYLK...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6400320/
https://www.ncbi.nlm.nih.gov/pubmed/29925964
http://dx.doi.org/10.1038/s41436-018-0038-0

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