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Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient.

作者信息

Dudakova Lubica, Palos Michalis, Jirsova Katerina, Skalicka Pavlina, Dundr Pavel, Liskova Petra

机构信息

a Laboratory of the Biology and Pathology of the Eye, Institute of Inherited Metabolic Disorders, First Faculty of Medicine , Charles University in Prague and General University Hospital in Prague , Prague , Czech Republic.

b Department of Ophthalmology, First Faculty of Medicine , Charles University in Prague and General Teaching Hospital in Prague , Prague , Czech Republic.

出版信息

Ophthalmic Genet. 2016 Dec;37(4):473-474. doi: 10.3109/13816810.2015.1126615. Epub 2016 Mar 30.

DOI:10.3109/13816810.2015.1126615
PMID:27028151
Abstract
摘要

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