Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy-Reference-Cited by-同舟云学术

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy

Published:2015-09-09 Issue:1 Volume:5 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Nikopoulos Konstantinos,Avila-Fernandez Almudena,Corton Marta,Lopez-Molina Maria Isabel,Perez-Carro Raquel,Bontadelli Lara,Di Gioia Silvio Alessandro,Zurita Olga,Garcia-Sandoval Blanca,Rivolta Carlo,Ayuso Carmen

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/srep13902.pdf

Reference35 articles.

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2. Ba-Abbad, R. et al. Clinical characteristics of early retinal disease due to CDHR1 mutation. Molecular vision 19, 2250–2259 (2013).

3. Berger, W., Kloeckener-Gruissem, B. & Neidhardt, J. The molecular basis of human retinal and vitreoretinal diseases. Progress in retinal and eye research 29, 335–375 (2010).

4. den Hollander, A. I., Black, A., Bennett, J. & Cremers, F. P. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. The Journal of clinical investigation 120, 3042–3053, 10.1172/JCI42258 (2010).

5. Littink, K. W. et al. Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations. Invest Ophthalmol Vis Sci 51, 5943–5951, 10.1167/iovs.10-5797 (2010).

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