Autosomal recessive congenital ichthyoses in the Czech Republic

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F16%3A00087593" target="_blank" >RIV/00216224:14110/16:00087593 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/16:00063974 RIV/00159816:_____/16:00063974
Result on the web
<a href="http://dx.doi.org/10.1111/bjd.13918" target="_blank" >http://dx.doi.org/10.1111/bjd.13918</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/bjd.13918" target="_blank" >10.1111/bjd.13918</a>

Result language
angličtina
Original language name
Autosomal recessive congenital ichthyoses in the Czech Republic
Original language description
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of disorders of epidermal cornification. Nine genes have been identified to be causative of ARCI, including TGM1 1,2 , ABCA12 3 , NIPAL4 4 , CYP4F22 5 , ALOX12B, ALOXE3 6 , PNPLA1 7 , LIPN 8 , and CERS3 9 . ARCI is rare, with a reported prevalence 1 in 200,000 in European and northern American populations 10 . We started DNA analysis of ARCI in 2012 when PCR-direct sequencing of the TGM1, ALOX12B, ALOXE3, NIPAL4, and CYP4F22 genes was introduced and patients were analysed step by step for mutations in these genes.
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

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

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