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@article{1306166,
author = {Bučková, Hana and Nosková, Hana and Borská, Romana and Réblová, Kamila and Pinková, B. and Zapletalová, Eva and Kopečková, L. and Horký, Ondřej and Němečková, Jitka and Gaillyová, Renata and Nagy, Z. and Veselý, Karel and Hermanová, Markéta and Stehlíková, Kristýna and Fajkusová, Lenka},
article_location = {Hoboken},
article_number = {2},
doi = {http://dx.doi.org/10.1111/bjd.13918},
keywords = {LAMELLAR ICHTHYOSIS; MUTATIONS; GENE; FORM},
language = {eng},
issn = {0007-0963},
journal = {British Journal of Dermatology},
title = {Autosomal recessive congenital ichthyoses in the Czech Republic},
url = {http://onlinelibrary.wiley.com/doi/10.1111/bjd.13918/epdf},
volume = {174},
year = {2016}
}
TY - JOUR
ID - 1306166
AU - 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
PY - 2016
TI - Autosomal recessive congenital ichthyoses in the Czech Republic
JF - British Journal of Dermatology
VL - 174
IS - 2
SP - 405-407
EP - 405-407
PB - Wiley-Blackwell
SN - 00070963
KW - LAMELLAR ICHTHYOSIS
KW - MUTATIONS
KW - GENE
KW - FORM
UR - http://onlinelibrary.wiley.com/doi/10.1111/bjd.13918/epdf
N2 - 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.
ER -
BUČKOVÁ, Hana, Hana NOSKOVÁ, Romana BORSKÁ, Kamila RÉBLOVÁ, B. PINKOVÁ, Eva ZAPLETALOVÁ, L. KOPEČKOVÁ, Ondřej HORKÝ, Jitka NĚMEČKOVÁ, Renata GAILLYOVÁ, Z. NAGY, Karel VESELÝ, Markéta HERMANOVÁ, Kristýna STEHLÍKOVÁ and Lenka FAJKUSOVÁ. Autosomal recessive congenital ichthyoses in the Czech Republic. \textit{British Journal of Dermatology}. Hoboken: Wiley-Blackwell, 2016, vol.~174, No~2, p.~405-407. ISSN~0007-0963. Available from: https://dx.doi.org/10.1111/bjd.13918.
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