Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene-Reference-Cited by-同舟云学术

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Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Published:2018-09-17 Issue:1 Volume:18 Page:
ISSN:1471-2415
Container-title:BMC Ophthalmology
language:en
Short-container-title:BMC Ophthalmol

Author:

Evans Cerys J.,Dudakova Lubica,Skalicka Pavlina,Mahelkova Gabriela,Horinek Ales,Hardcastle Alison J.,Tuft Stephen J.,Liskova Petra

Funder

Univerzita Karlova v Praze

Grantová Agentura, Univerzita Karlova

Publisher

Springer Science and Business Media LLC

Subject

Ophthalmology,General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s12886-018-0918-8.pdf

Reference28 articles.

1. Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, et al. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. Invest Ophthalmol Vis Sci. 2007;48:5007–12.

2. Weiss JS, Moller HU, Aldave AJ, Seitz B, Bredrup C, Kivelä T, et al. IC3D classification of corneal dystrophies--edition 2. Cornea. 2015;34:117–59.

3. Hoang-Xuan T, Pouliquen Y, Gasteau J. Schnyder's crystalline dystrophy. II. Association with genu valgum. J Fr Ophtalmol. 1985;8:743–7.

4. Orr A, Dube MP, Marcadier J, Jiang H, Federico A, George S, et al. Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy. PLoS One. 2007;2:e685.

5. Li W. Bringing bioactive compounds into membranes: the UbiA superfamily of intramembrane aromatic prenyltransferases. Trends Biochem Sci. 2016;41:356–70.

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