Targeted Deep Sequencing in Multiple-Affected Sibships of European Ancestry Identifies Rare Deleterious Variants in PTPN22 That Confer Risk for Type 1 Diabetes

Despite finding more than 40 risk loci for type 1 diabetes (T1D), the causative variants and genes remain largely unknown. Here, we sought to identify rare deleterious variants of moderate-to-large effects contributing to T1D. We deeply sequenced 301 protein-coding genes located in 49 previously rep...

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Detalhes bibliográficos
Publicado no:Diabetes
Main Authors: Ge, Yan, Onengut-Gumuscu, Suna, Quinlan, Aaron R., Mackey, Aaron J., Wright, Jocyndra A., Buckner, Jane H., Habib, Tania, Rich, Stephen S., Concannon, Patrick
Formato: Artigo
Idioma:Inglês
Publicado em: American Diabetes Association 2016
Assuntos:
Genetics/Genomes/Proteomics/Metabolomics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4764149/
https://ncbi.nlm.nih.gov/pubmed/26631741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db15-0322
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