Germline Mutations in CIDEB and Protection against Liver Disease

Exome sequencing in hundreds of thousands of persons may enable the identification of rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for the discovery of new therapeutic targets. We performed a multistage exome sequencin...

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Vydané v:	The New England journal of medicine Ročník 387; číslo 4; s. 332 - 344
Hlavní autori:	Verweij, Niek, Haas, Mary E., Nielsen, Jonas B., Sosina, Olukayode A., Kim, Minhee, Akbari, Parsa, De, Tanima, Hindy, George, Bovijn, Jonas, Persaud, Trikaldarshi, Miloscio, Lawrence, Germino, Mary, Panagis, Lampros, Watanabe, Kyoko, Mbatchou, Joelle, Jones, Marcus, LeBlanc, Michelle, Balasubramanian, Suganthi, Lammert, Craig, Enhörning, Sofia, Melander, Olle, Carey, David J., Still, Christopher D., Mirshahi, Tooraj, Rader, Daniel J., Parasoglou, Prodromos, Walls, Johnathon R., Overton, John D., Reid, Jeffrey G., Economides, Aris, Cantor, Michael N., Zambrowicz, Brian, Murphy, Andrew J., Abecasis, Goncalo R., Ferreira, Manuel A.R., Smagris, Eriks, Gusarova, Viktoria, Sleeman, Mark, Yancopoulos, George D., Marchini, Jonathan, Kang, Hyun M., Karalis, Katia, Shuldiner, Alan R., Della Gatta, Giusy, Locke, Adam E., Baras, Aris, Lotta, Luca A.
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	United States Massachusetts Medical Society 28.07.2022
Predmet:	Alanine Alanine transaminase Algorithms Alleles Apoptosis Regulatory Proteins - genetics Apoptosis Regulatory Proteins - metabolism Association analysis Basic Medicine Biobanks Cell lines Cirrhosis Electronic health records Exome Sequencing Fatty liver Gastroenterology Gastrointestinal surgery Genes Genetic analysis Genetic diversity Genetic Predisposition to Disease - genetics Genetic Predisposition to Disease - prevention & control Genetics Genetics General Genomes Germ-Line Mutation Hepatoma Humans Liver - metabolism Liver cancer Liver cirrhosis Liver Disease Liver diseases Liver Diseases - genetics Liver Diseases - metabolism Liver Diseases - prevention & control Medical and Health Sciences Medical Genetics and Genomics (including Gene Therapy) Medicin och hälsovetenskap Medicinsk genetik och genomik (Här ingår: Genterapi) Medicinska och farmaceutiska grundvetenskaper Mutation Patients Phenotypes siRNA Therapeutic targets Transaminases - genetics United Kingdom > UK
ISSN:	0028-4793, 1533-4406, 1533-4406
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