Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11140%2F11%3A10103116" target="_blank" >RIV/00216208:11140/11:10103116 - isvavai.cz</a>
Alternative codes found
RIV/00669806:_____/11:10103116
Result on the web
<a href="http://dx.doi.org/10.1097/DAD.0b013e318209070a" target="_blank" >http://dx.doi.org/10.1097/DAD.0b013e318209070a</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/DAD.0b013e318209070a" target="_blank" >10.1097/DAD.0b013e318209070a</a>
Alternative languages
Result language
angličtina
Original language name
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma
Original language description
Recently, Kazakov et al permormed a clinicopathologic and genotypic analysis on a series of 16 patients suffering from multiple (familial) trichoepitheliomas (MFT: MIM 601606) and found mutations in the CYLD gene in 46%.
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
FP - Other medical fields
OECD FORD branch
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Result continuities
Project
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Continuities
V - Vyzkumna aktivita podporovana z jinych verejnych zdroju
Others
Publication year
2011
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Dermatopathology
ISSN
0193-1091
e-ISSN
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Volume of the periodical
33
Issue of the periodical within the volume
6
Country of publishing house
US - UNITED STATES
Number of pages
3
Pages from-to
640-642
UT code for WoS article
000293060800025
EID of the result in the Scopus database
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