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Germline hypomorphic CARD11 mutations in severe atopic disease

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Germline hypomorphic CARD11 mutations in severe atopic disease

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5664152

Germline hypomorphic CARD11 mutations in severe atopic disease

About this item

Full title

Germline hypomorphic CARD11 mutations in severe atopic disease

Author / Creator

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 , Meffre, Eric , Gelfand, Erwin W , Snow, Andrew L and Milner, Joshua D

Publisher

New York: Springer New York

Journal title

Nature genetics, 2017-08, Vol.49 (8), p.1192-1201

Language

English

Formats

Articles

Publication information

Publisher

New York: Springer New York

Subjects

Subjects and topics

More information

Scope and Contents

Contents

Erwin Gelfand, Andrew Snow, Joshua Milner and colleagues identify heterozygous
CARD11
mutations associated with severe atopic disease in eight individuals from four families. They further show that the mutant CARD11 proteins exhibit both loss-of-function and dominant-interfering activity and that the cellular defects in patient T cells can be...

Alternative Titles

Full title

Germline hypomorphic CARD11 mutations in severe atopic disease

Authors, Artists and Contributors

Author / Creator

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5664152

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5664152

Other Identifiers

ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/ng.3898

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