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Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.
Am J Hum Genet. 2010.
PMID: 20970105
Free PMC article.
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH.
Simpson MA, et al. Among authors: gurtz k.
Nat Genet. 2004 Nov;36(11):1225-9. doi: 10.1038/ng1460. Epub 2004 Oct 24.
Nat Genet. 2004.
PMID: 15502825
Free article.
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SLITRK6 mutations cause myopia and deafness in humans and mice.
Tekin M, Chioza BA, Matsumoto Y, Diaz-Horta O, Cross HE, Duman D, Kokotas H, Moore-Barton HL, Sakoori K, Ota M, Odaka YS, Foster J 2nd, Cengiz FB, Tokgoz-Yilmaz S, Tekeli O, Grigoriadou M, Petersen MB, Sreekantan-Nair A, Gurtz K, Xia XJ, Pandya A, Patton MA, Young JI, Aruga J, Crosby AH.
Tekin M, et al. Among authors: gurtz k.
J Clin Invest. 2013 May;123(5):2094-102. doi: 10.1172/JCI65853. Epub 2013 Apr 1.
J Clin Invest. 2013.
PMID: 23543054
Free PMC article.
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Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.
Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, Gurtz K, Patton MA, Crosby AH.
Zahka K, et al. Among authors: gurtz k.
Heart. 2008 Oct;94(10):1326-30. doi: 10.1136/hrt.2007.127241. Epub 2008 May 8.
Heart. 2008.
PMID: 18467358
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