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

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F16%3A10328894" target="_blank" >RIV/00064165:_____/16:10328894 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/16:10328894
Result on the web
<a href="http://dx.doi.org/10.3109/13816810.2015.1126615" target="_blank" >http://dx.doi.org/10.3109/13816810.2015.1126615</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3109/13816810.2015.1126615" target="_blank" >10.3109/13816810.2015.1126615</a>

Result language
angličtina
Original language name
Novel TGFBI mutation p.(Leu558Arg) in a lattice corneal dystrophy patient
Original language description
Our study expands the spectrum of pathogenic mutations associated with LCD and although we cannot show segregation of c.1673T G in TGFBI within the family, it is likely that the change identified is pathogenic and this is supported by prediction algorithms,conservation of the affected residue across multiple species, and an absence in variant databases.
Czech name
—
Czech description
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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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Project
<a href="/en/project/LM2010004" target="_blank" >LM2010004: BBMRI_CZ in the building of the Czech part of a large distributed research infrastructure of pan-European importance: the creation and operation of the network of banks of biological material for biomedical research</a><br>
Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Publication year
2016
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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