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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

Lookup NU author(s): Professor Michael Briggs

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Author(s): 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, Hal C, Ikegawa S, Jouk PS, 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

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2011

Volume: 89

Issue: 6

Pages: 767-772

Print publication date: 08/12/2011

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press

URL: http://dx.doi.org/10.1016/j.ajhg.2011.10.016

DOI: 10.1016/j.ajhg.2011.10.016

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