Juan S. Bonifacino
@bonifacinojuan
Cell biologist at NIH. Lover of science, nature and music. All views are my own.
ID: 4647977067
https://www.nichd.nih.gov/research/atNICHD/Investigators/bonifacino 29-12-2015 23:43:55
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Our new paper, in collaboration with the Karolina Skvarova group Univerzita Karlova Fakultní nemocnice v Motole, reveals that patients with the c.269 T>C variant in AP1S1 manifest all symptoms of MEDNIK syndrome, not just enteropathy. 📄 Read it here: rdcu.be/dTW2o.