Mutations in the Mevalonate Kinase (MVK) Gene Cause Nonsyndromic Retinitis Pigmentosa

Author:

Siemiatkowska Anna M.,van den Born L. Ingeborgh,van Hagen P. Martin,Stoffels Monique,Neveling Kornelia,Henkes Arjen,Kipping-Geertsema Mieke,Hoefsloot Lies H.,Hoyng Carel B.,Simon Anna,den Hollander Anneke I.,Cremers Frans P.M.,Collin Rob W.J.

Funder

Netherlands Organization for Scientific Research

NWO

Algemene Nederlandse Vereniging ter Voorkoming van Blindheid

Gelderse Blinden Stichting

Landelijke Stichting voor Blinden en Slechtzienden

Macula Degeneratie Fonds

Rotterdamse Stichting Blindenbelangen

Stichting Blinden-Penning

Publisher

Elsevier BV

Subject

Ophthalmology

Reference51 articles.

1. OMIM: Online Mendelian Inheritance in Man [database online]. #26800: Retinitis pigmentosa; RP. 2012. Available at http://www.omim.org/entry/268000. Accessed May 31, 2013.

2. Retinitis pigmentosa;Hamel;Orphanet J Rare Dis [serial online],2006

3. RetNet: Retinal Information Network [database online]. Summaries of Genes and Loci Causing Retinal Diseases. Last updated June 18, 2013. 2013. Available at https://sph.uth.edu/retnet/. Accessed July 16, 2013.

4. OMIM: Online Mendelian Inheritance in Man [database online]. #610377: Mevalonic aciduria; MEVA. 2012. Available at http://www.omim.org/entry/610377. Accessed May 31, 2013.

5. Mevalonic aciduria-an inborn error of cholesterol and nonsterol isoprene biosynthesis;Hoffmann;N Engl J Med,1986

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