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Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.
Neurogenetics. 2010 Oct;11(4):379-89. doi: 10.1007/s10048-010-0243-8.
Neurogenetics. 2010.
PMID: 20390432
Free PMC article.
Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.
Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, FitzPatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC.
Southgate L, et al.
Am J Hum Genet. 2011 May 13;88(5):574-85. doi: 10.1016/j.ajhg.2011.04.013.
Am J Hum Genet. 2011.
PMID: 21565291
Free PMC article.
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