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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no: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 em: National Academy of Sciences 2016
Assuntos:
Biological Sciences
Acesso em linha: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: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados