Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity-Reference-Cited by-同舟云学术

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

Published:2015-12-21 Issue:2 Volume:48 Page:144-151
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Saksens Nicole T M,Krebs Mark P,Schoenmaker-Koller Frederieke E,Hicks Wanda,Yu Minzhong,Shi Lanying,Rowe Lucy,Collin Gayle B,Charette Jeremy R,Letteboer Stef J,Neveling Kornelia,van Moorsel Tamara W,Abu-Ltaif Sleiman,De Baere Elfride,Walraedt Sophie,Banfi Sandro,Simonelli Francesca,Cremers Frans P M,Boon Camiel J F,Roepman Ronald,Leroy Bart P,Peachey Neal S,Hoyng Carel B,Nishina Patsy M,den Hollander Anneke I

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3474.pdf

Reference61 articles.

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3. Deutman, A.F., van Blommestein, J.D., Henkes, H.E., Waardenburg, P.J. & Solleveld-van Driest, E. Butterfly-shaped pigment dystrophy of the fovea. Arch. Ophthalmol. 83, 558–569 (1970).

4. Fossarello, M. et al. Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy. Arch. Ophthalmol. 114, 448–456 (1996).

5. Pinckers, A. Patterned dystrophies of the retinal pigment epithelium. A review. Ophthalmic Paediatr. Genet. 9, 77–114 (1988).

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