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pro vyhledávání: '"Micheal F. McDermott"'
Autor:
Elaine Baguley, Graham A. Hitman, Sinisa Savic, Bruce Hayward, Mark D. Turner, Sarah M Churchman, Paul Emery, Lydia R. Coulthard, Leigh D Church, Hock Chye Gooi, Philip Wood, Rebeccah J. Mathews, Micheal F. McDermott, Belinda Nedjai
Publikováno v:
Annals of the Rheumatic Diseases. 67:1589-1595
Objective: To characterise and investigate the functional consequences of a novel TNFRSF1A splice site mutation causing tumour necrosis factor receptor associated periodic syndrome (TRAPS) in a 16-year-old male patient and his mother. Methods: Mutati