Human CHN1 Mutations Hyperactivate [alpha]2-Chimaerin and Cause Duane's Retraction Syndrome

Duane's retraction syndrome (DRS) is a complex congenital eye movement disorder caused by aberrant innervation of the extraocular muscles by axons of brainstem motor neurons. Studying families with a variant form of the disorder (DURS2-DRS), we have identified causative heterozygous missense mu...

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Veröffentlicht in:	Science (American Association for the Advancement of Science) 2008-08, Vol.321 (5890), p.839-843
Hauptverfasser:	Miyake, Noriko, Chilton, John, Psatha, Maria, Long, Cheng, Andrews, Caroline, Chan, Wai-Man, Law, Krystal, Crosier, Moira, Lindsay, Susan, Cheung, Michelle, Allen, James, Gutowski, Nick J, Ellard, Sian, Young, Elizabeth, Iannaccone, Alessandro, Appukuttan, Binoy
Format:	Artikel
Sprache:	eng
Schlagworte:	Eyes & eyesight Genetic disorders Movement Mutation Neurology Proteins Signal transduction
Online-Zugang:	Volltext
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