Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

Eric D Boyden, A Belinda Campos-Xavier, Sebastian Kalamajski, Trevor L Cameron, Philippe Suarez, Goranka Tanackovic, Generoso Andria, Diana Ballhausen, Michael D Briggs, Claire Hartley, Daniel H Cohn, H Rosemarie Davidson, Christine Hall, Shiro Ikegawa, Pierre-Simon Jouk, Rainer König, André Megarbané, Gen Nishimura, Ralph S Lachman, Geert MortierDavid L Rimoin, R Curtis Rogers, Massimiliano Rossi, Hirotake Sawada, Richard Scott, Sheila Unger, Eugenia Ribeiro Valadares, John F Bateman, Matthew L Warman, Andrea Superti-Furga, Luisa Bonafé

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31 Citeringar (Scopus)

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Keyphrases

Biochemistry, Genetics and Molecular Biology