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

BACKGROUND: The purpose of this study was to identify the genetic cause and describe the clinical phenotype of Schnyder corneal dystrophy (SCD) in six unrelated probands. METHODS: We identified two white Czech, two white British and two South Asian families with a clinical diagnosis of SCD. Ophthalm...

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Vydáno v:BMC Ophthalmol
Hlavní autoři: Evans, Cerys J., Dudakova, Lubica, Skalicka, Pavlina, Mahelkova, Gabriela, Horinek, Ales, Hardcastle, Alison J., Tuft, Stephen J., Liskova, Petra
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6142341/
https://ncbi.nlm.nih.gov/pubmed/30223810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12886-018-0918-8
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