Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10285558" target="_blank" >RIV/00216208:11110/14:10285558 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.3109/13816810.2013.811272" target="_blank" >http://dx.doi.org/10.3109/13816810.2013.811272</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3109/13816810.2013.811272" target="_blank" >10.3109/13816810.2013.811272</a>
Alternative languages
Result language
angličtina
Original language name
Corneal Endothelial Findings in a Czech Patient with Compound Heterozygous Mutations in KERA
Original language description
We describe, for the first time, a proband with cornea plana who has compound heterozygous mutations in KERA. In addition to typical cornea plana features we have also documented corneal endothelial abnormalities in our patient. Our study therefore supports the previously suggested hypothesis that endothelial changes may be part of the cornea plana phenotype.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry
OECD FORD branch
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Result continuities
Project
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Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Ophthalmic Genetics
ISSN
1381-6810
e-ISSN
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Volume of the periodical
35
Issue of the periodical within the volume
4
Country of publishing house
US - UNITED STATES
Number of pages
3
Pages from-to
252-254
UT code for WoS article
000345213900008
EID of the result in the Scopus database
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