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Journal of the American Society of Nephrology : JASN|October 13, 2006
Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney diseasePeter C Harris, Kyongtae T Bae, Sandro Rossetti, et al.Human Molecular Genetics|August 30, 2014
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndromeKinga M Bujakowska, Qi Zhang, Anna M Siemiatkowska, et al.Nature Genetics|July 31, 2012
NMNAT1 mutations cause Leber congenital amaurosisMarni J Falk, Qi Zhang, Eiko Nakamaru-Ogiso, et al.Nature Genetics|January 18, 2006
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk ratUrsula M Smith, Mark Consugar, Louise J Tee, et al.American Journal of Human Genetics|September 3, 2013
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathyXiaowu Gai, Daniele Ghezzi, Mark A Johnson, et al.Pageof 2