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- W2146707961 abstract "Autosomal recessive congenital ichthyosis (ARCI) represents aheterogeneous 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, witha reported prevalence 1 in 200,000 in European and northernAmerican populations 10 . We started DNA analysis of ARCI in2012 when PCR-direct sequencing of the TGM1, ALOX12B, ALOXE3,NIPAL4, and CYP4F22 genes was introduced and patients wereanalysed step by step for mutations in these genes." @default.
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- W2146707961 date "2015-11-14" @default.
- W2146707961 modified "2023-10-17" @default.
- W2146707961 title "Autosomal recessive congenital ichthyoses in the Czech Republic" @default.
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- W2146707961 doi "https://doi.org/10.1111/bjd.13918" @default.
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