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Comment
. 2011 Mar;79(3):222-4.
doi: 10.1111/j.1399-0004.2010.01612.x. Epub 2011 Jan 4.

Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration

M Metzler  1
Affiliations
Comment

Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration

M Metzler. Clin Genet. 2011 Mar.
No abstract available

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  • Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
    Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F. Otto EA, et al. Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835237 Free PMC article.

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