Analysis of human sarcospan as a candidate gene for CFEOM1

by Engle Elizabeth C, O'Brien Kristine F, Kunkel Louis M
Published 2001-02-01

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in <it>ARIX</it>

by Saito Nakamichi, Matsumoto Naomichi, Ruttum Mark, Ballard Evan, London Arnold, Letson Robert, O'Keefe Michael, Johnson Roger, Lee Bjorn A, Yamada Koki, McIntosh Nathalie, Engle Elizabeth C, Collins Mary, Morris Lisa, Monte Monte, Magli Adriano, de Berardinis Teresa
Published 2002-03-01

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

by Gutowski Nicholas J, Pott Jan WR, Traboulsi Elias I, Yazdani Ahmad, Hunter David G, Geraghty Michael T, Lyons Christopher, Armstrong Linlea, Fredrick Douglas, Dragan Laryssa, Andrews Caroline, Chan Wai-Man, Ellard Sian, Young Elizabeth, Hanisch Frank, Koc Feray, Schnall Bruce, Engle Elizabeth C
Published 2007-05-01