Autosomal recessive congenital ichthyoses in the Czech Republic

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Authors

BUČKOVÁ Hana NOSKOVÁ Hana BORSKÁ Romana RÉBLOVÁ Kamila PINKOVÁ B. ZAPLETALOVÁ Eva KOPEČKOVÁ L. HORKÝ Ondřej NĚMEČKOVÁ Jitka GAILLYOVÁ Renata NAGY Z. VESELÝ Karel HERMANOVÁ Markéta STEHLÍKOVÁ Kristýna FAJKUSOVÁ Lenka

Year of publication 2016
Type Article in Periodical
Magazine / Source British Journal of Dermatology
MU Faculty or unit

Faculty of Medicine

Citation
Web http://onlinelibrary.wiley.com/doi/10.1111/bjd.13918/epdf
Doi http://dx.doi.org/10.1111/bjd.13918
Field Genetics and molecular biology
Keywords LAMELLAR ICHTHYOSIS; MUTATIONS; GENE; FORM
Attached files
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.
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