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

Year: 
2011
Volume: 
89
Issue: 
6
Citation: 
Boyden ED, Campos-Xavier AB, Kalamajski S, Cameron TL, Suarez P, Tanackovich G, Andria G, Ballhausen D, Briggs MD, Hartley C, Cohn DH, Davidson HR, Hall C, Ikegawa S, Jouk P-S, Konig R, Megarbane A, Nishimura G, Lachman RS, Mortier G, Rimoin DL, Rogers RC, Rossi M, Sawada H, Scott R, Unger S, Valadares ER, Bateman JF, Warman ML, Superti-Furga A, Bonafe L. Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity​. American Journal of Human Genetics 89 (6) : 767 - 772(2011)