York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
Year: 2014
Type: article
Study design: Case Report
Authors: Thomas Markello, Dong Chen, Justin Y. Kwan, Iren Horkayne-Szakaly, Alan Morrison, Olga Simakova, Irina Maric, Jay Lozier, Andrew R. Cullinane, Tatjana Kilo, Lynn Meister, Kourosh Pakzad, William Bone, Sanjay Chainani, Elizabeth Lee, Amanda Links, Cornelius Boerkoel, Roxanne Fischer, Camilo Toro, James G. White, William A. Gahl, Meral Gunay-Aygun
Institutions: National Institutes of Health, Office of the Director, NIH Common Fund, Mayo Clinic, University of Maryland, Baltimore, Defense Health Agency, Joint Pathology Center, National Institutes of Health Clinical Center, National Human Genome Research Institute, Children's Hospital at Westmead, Joe DiMaggio Children's Hospital, Memorial Healthcare System, University of Minnesota
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: green
Award: G5294359063
OpenAlex ID: W2076466528