Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI; Koenekoop RK; Mohamed MD; Arts HH; Boldt K; Towns KV; Sedmak T; Beer M; Nagel-Wolfrum K; McKibbin M; Dharmaraj S; Lopez I; Ivings L; Williams GA; Springell K; Woods CG; Jafri H; Rashid Y; Strom TM; van der Zwaag B; Gosens I; Kersten FF; van Wijk E; Veltman JA; Zonneveld MN; van Beersum SE; Maumenee IH; Wolfrum U; Cheetham ME; Ueffing M; Cremers FP; Inglehearn CF; Roepman R; Nature Genetics, 2007, vol. 39, issue 7, p 889, ISSN 10614036. ISBN 10614036.

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