Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

Author:

Langmann Thomas,Di Gioia Silvio Alessandro,Rau Isabella,Stöhr Heidi,Maksimovic Nela S.,Corbo Joseph C.,Renner Agnes B.,Zrenner Eberhart,Kumaramanickavel Govindasamy,Karlstetter Marcus,Arsenijevic Yvan,Weber Bernhard H.F.,Gal Andreas,Rivolta Carlo

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Retinitis pigmentosa;Hartong;Lancet,2006

2. Why do cone photoreceptors die in rod-specific forms of retinal degenerations?;Koenekoop;Ophthalmic Genet.,2009

3. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family;Gu;J. Med. Genet.,1999

4. CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors;Corbo;Genome Res.,2010

5. Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa;Rio Frio;Mol. Vis.,2009

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