Germline hypomorphic CARD11 mutations in severe atopic disease

Few monogenic causes for severe manifestations of common allergic diseases have been identified. Via next generation sequencing on a cohort of patients with severe atopic dermatitis, some with comorbid infections, we found 8 individuals from 4 families with novel heterozygous mutations in CARD11, a...

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Publicado en:Nat Genet
Autores principales: Ma, Chi A, Stinson, Jeffrey R, Zhang, Yuan, Abbott, Jordan K, Weinreich, Michael A, Hauk, Pia J, Reynolds, Paul R, Lyons, Jonathan J, Nelson, Celeste G, Ruffo, Elisa, Dorjbal, Batsukh, Glauzy, Salomé, Yamakawa, Natsuko, Arjunaraja, Swadhinya, Voss, Kelsey, Stoddard, Jennifer, Niemela, Julie, Zhang, Yu, Rosenzweig, Sergio D, McElwee, Joshua J, DiMaggio, Thomas, Matthews, Helen F, Jones, Nina, Stone, Kelly D, Palma, Alejandro, Oleastro, Matías, Prieto, Emma, Bernasconi, Andrea R, Dubra, Geronimo, Danielian, Silvia, Zaiat, Jonathan, Marti, Marcelo A, Kim, Brian, Cooper, Megan A, Romberg, Neil D, Meffre, Eric, Gelfand, Erwin W, Snow, Andrew L, Milner, Joshua D
Formato: Artigo
Lenguaje:Inglês
Publicado: 2017
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5664152/
https://ncbi.nlm.nih.gov/pubmed/28628108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3898
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