Mutation in ST6GALNAC5 identified in family with coronary artery disease

We aimed to identify the genetic cause of coronary artery disease (CAD) in an Iranian pedigree. Genetic linkage analysis identified three loci with an LOD score of 2.2. Twelve sequence variations identified by exome sequencing were tested for segregation with disease. A p.Val99Met causing mutation i...

Descripción completa

Detalles Bibliográficos
Autores principales: InanlooRahatloo, Kolsoum, Parsa, Amir Farhang Zand, Huse, Klaus, Rasooli, Paniz, Davaran, Saeid, Platzer, Matthias, Kramer, Marcel, Fan, Jian-Bing, Turk, Casey, Amini, Sasan, Steemers, Frank, Gunderson, Kevin, Ronaghi, Mostafa, Elahi, Elahe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884232/
https://www.ncbi.nlm.nih.gov/pubmed/24399302
http://dx.doi.org/10.1038/srep03595

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884232/
https://www.ncbi.nlm.nih.gov/pubmed/24399302
http://dx.doi.org/10.1038/srep03595

Ejemplares similares