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...

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Detalhes bibliográficos
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2014
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3884232/
https://ncbi.nlm.nih.gov/pubmed/24399302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep03595
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