Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations

Author:

Nishiguchi Koji M.,Avila-Fernandez Almudena,van Huet Ramon A.C.,Corton Marta,Pérez-Carro Raquel,Martín-Garrido Esther,López-Molina María Isabel,Blanco-Kelly Fiona,Hoefsloot Lies H.,van Zelst-Stams Wendy A.,García-Ruiz Pedro J.,del Val Javier,Di Gioia Silvio Alessandro,Klevering B. Jeroen,van de Warrenburg Bart P.C.,Vazquez Carlos,Cremers Frans P.M.,García-Sandoval Blanca,Hoyng Carel B.,Collin Rob W.J.,Rivolta Carlo,Ayuso Carmen

Publisher

Elsevier BV

Subject

Ophthalmology

Reference36 articles.

1. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies;Den Hollander;J Clin Invest,2010

2. Retinitis pigmentosa;Hamel;Orphanet J Rare Dis,2006

3. Retinitis pigmentosa;Hartong;Lancet,2006

4. Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa;Ayuso;Clin Genet,1995

5. Retinal Information Network (RetNet). Number of Genes and Loci by Disease Category (One Disease per Gene/Locus). Available at: https://sph.uth.edu/retnet/sum-dis.htm#A-genes. Accessed February 4, 2014.

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