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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1

Wai-Man Chan, Caroline Andrews, Laryssa Dragan, Douglas Fredrick, Linlea Armstrong, Christopher Lyons, Michael T Geraghty, David G Hunter, Ahmad Yazdani, Elias I Traboulsi, Jan WR Pott, Nicholas J Gutowski, Sian Ellard, Elizabeth Young, Frank Hanisch, Feray Koc, Bruce Schnall and Elizabeth C Engle*

BMC Genetics 2007, 8:26  doi:10.1186/1471-2156-8-26

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