Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans

Thoracic aortic aneurysms and dissections (TAAD) represent a substantial cause of morbidity and mortality worldwide. Many individuals presenting with an inherited form of TAAD do not have causal mutations in the set of genes known to underlie disease. Using whole-genome sequencing in two first cousi...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Proc Natl Acad Sci U S A
Main Authors: Lee, Vivian S., Halabi, Carmen M., Hoffman, Erin P., Carmichael, Nikkola, Leshchiner, Ignaty, Lian, Christine G., Bierhals, Andrew J., Vuzman, Dana, Mecham, Robert P., Frank, Natasha Y., Stitziel, Nathan O.
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 2016
Assuntos:
Biological Sciences
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4978273/
https://ncbi.nlm.nih.gov/pubmed/27432961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1601442113
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares