Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Janda, Alexandra L."'
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.
Publikováno v:
In Genetics in Medicine January 2019 21(1):144-151
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.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::901d6fa5a41c2637023a6d6b60e69d24
http://europepmc.org/articles/PMC6400320
http://europepmc.org/articles/PMC6400320
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.
Publikováno v:
Genetics in Medicine; January 2019, Vol. 21 Issue: 1 p144-151, 8p