1. 25 MUTATIONS IN STXBP3 CONTRIBUTE TO VERY EARLY ONSET OF IBD, IMMUNODEFICIENCY AND HEARING LOSS
- Author
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Edward M. Behrens, Jodie Ouahed, Richard L. Maas, Dana Vuzman, Noor Dawany, Sophia Tollefson, Kathryn E. Hamilton, Sergey Nejentsev, Ashley Wilson, João Farela Neves, Corneliu Bodea, Karen Wou, Alexio M. Muise, Agnes Toth-Petroczy, Kameron Kooshesh, Maria L. Sanmillan, Voytek Slowik, Kwame Anyane Yeboa, Helena Flores, Neil Warner, Scott B. Snapper, Waldo A. Spessott, Jonathan P. Evans, Jeff Goldsmith, Wendy K. Chung, Claudio G. Giraudo, Nikkola Carmichael, Marcella Devoto, Kathleen E. Sullivan, Judith R. Kelsen, Christopher A. Cassa, and Preti Jain
- Subjects
0301 basic medicine ,Hepatology ,Endosome ,business.industry ,Hearing loss ,Gastroenterology ,Intron ,medicine.disease ,Very early onset ,03 medical and health sciences ,030104 developmental biology ,Immunology ,Mutation (genetic algorithm) ,RNA splicing ,Immunology and Allergy ,Medicine ,Sensorineural hearing loss ,medicine.symptom ,business ,Immunodeficiency - Published
- 2018
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