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pro vyhledávání: '"P L, Bucklin"'
Autor:
Andrew J. Takeda, Timothy J. Maher, Yu Zhang, Stephen M. Lanahan, Molly L. Bucklin, Susan R. Compton, Paul M. Tyler, William A. Comrie, Makoto Matsuda, Kenneth N. Olivier, Stefania Pittaluga, Joshua J. McElwee, Debra A. Long Priel, Douglas B. Kuhns, Roger L. Williams, Peter J. Mustillo, Matthias P. Wymann, V. Koneti Rao, Carrie L. Lucas
Publikováno v:
Nature Communications, Vol 10, Iss 1, Pp 1-12 (2019)
Causally linking a mutation to clinical phenotypes in rare hereditary diseases is both challenging and illuminating. Here the authors identify PI3Kɣ mutations in a patient with immune dysregulation, and recapitulate the phenotypes in PI3Kɣ-deficien
Externí odkaz:
https://doaj.org/article/e5661652c92a434e8616129d00386c3f
Publikováno v:
The Journal of the Michigan Dental Association. 72(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2d488aedd8f6d5fbe144c901829e53ca
https://pubmed.ncbi.nlm.nih.gov/2074585
https://pubmed.ncbi.nlm.nih.gov/2074585