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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

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FP - Other medical fields

  • OECD FORD branch

Result continuities

  • Project

  • 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

  • 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