Matches in SemOpenAlex for { <https://semopenalex.org/work/W2587808805> ?p ?o ?g. }
- W2587808805 abstract "Epidermolysis bullosa simplex (EBS) is an inherited skindisorder caused by mutations in the keratin 5 (KRT5) andkeratin 14 (KRT14) genes, with fragility of basaů keratinocytesleading to epidermal cytolysis and blistering. Mutations werecharacterized using polymerase chain reaction (PCR) and DNAsequencing. Further, to explore possible correlations withfunction, the structural effects of the mutations in segment 2Bof KRT5 and KRT14 and associated with EBS in our patients. Wehave identified mutations in the KRT5 and KRT14 genesin 16 of23 families affected by EBS in the Czech republic. Elevendifferent sequence variants were found, of which four have notbeen reported previously." @default.
- W2587808805 created "2017-02-24" @default.
- W2587808805 creator A5000608507 @default.
- W2587808805 creator A5012408578 @default.
- W2587808805 creator A5026661713 @default.
- W2587808805 creator A5045351360 @default.
- W2587808805 creator A5049735624 @default.
- W2587808805 creator A5058051175 @default.
- W2587808805 creator A5065808074 @default.
- W2587808805 creator A5075086332 @default.
- W2587808805 date "2010-02-01" @default.
- W2587808805 modified "2023-09-25" @default.
- W2587808805 title "Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure" @default.
- W2587808805 cites W1483430311 @default.
- W2587808805 cites W1938968123 @default.
- W2587808805 cites W1965150516 @default.
- W2587808805 cites W1972234173 @default.
- W2587808805 cites W1981525396 @default.
- W2587808805 cites W1986748798 @default.
- W2587808805 cites W2002150021 @default.
- W2587808805 cites W2003000391 @default.
- W2587808805 cites W2005793437 @default.
- W2587808805 cites W2015885430 @default.
- W2587808805 cites W2017259599 @default.
- W2587808805 cites W2017830084 @default.
- W2587808805 cites W2019410161 @default.
- W2587808805 cites W2021802957 @default.
- W2587808805 cites W2025768791 @default.
- W2587808805 cites W2027876811 @default.
- W2587808805 cites W2028126767 @default.
- W2587808805 cites W2028231353 @default.
- W2587808805 cites W2029273040 @default.
- W2587808805 cites W2032610374 @default.
- W2587808805 cites W2033452569 @default.
- W2587808805 cites W2034553599 @default.
- W2587808805 cites W2042203410 @default.
- W2587808805 cites W2044129153 @default.
- W2587808805 cites W2044708979 @default.
- W2587808805 cites W2046476939 @default.
- W2587808805 cites W2055290772 @default.
- W2587808805 cites W2060809301 @default.
- W2587808805 cites W2063182903 @default.
- W2587808805 cites W2067129601 @default.
- W2587808805 cites W2075119539 @default.
- W2587808805 cites W2077359517 @default.
- W2587808805 cites W2082463323 @default.
- W2587808805 cites W2084334336 @default.
- W2587808805 cites W2084354314 @default.
- W2587808805 cites W2096220364 @default.
- W2587808805 cites W2097554174 @default.
- W2587808805 cites W2118233996 @default.
- W2587808805 cites W2119454174 @default.
- W2587808805 cites W2131288855 @default.
- W2587808805 cites W2132588458 @default.
- W2587808805 cites W2134389920 @default.
- W2587808805 cites W2144675556 @default.
- W2587808805 cites W2144998676 @default.
- W2587808805 cites W2149827167 @default.
- W2587808805 cites W2161800184 @default.
- W2587808805 cites W2170400730 @default.
- W2587808805 cites W2331414553 @default.
- W2587808805 cites W2490386721 @default.
- W2587808805 doi "https://doi.org/10.1111/j.1365-2133.2010.09626.x" @default.
- W2587808805 hasPublicationYear "2010" @default.
- W2587808805 type Work @default.
- W2587808805 sameAs 2587808805 @default.
- W2587808805 citedByCount "0" @default.
- W2587808805 crossrefType "journal-article" @default.
- W2587808805 hasAuthorship W2587808805A5000608507 @default.
- W2587808805 hasAuthorship W2587808805A5012408578 @default.
- W2587808805 hasAuthorship W2587808805A5026661713 @default.
- W2587808805 hasAuthorship W2587808805A5045351360 @default.
- W2587808805 hasAuthorship W2587808805A5049735624 @default.
- W2587808805 hasAuthorship W2587808805A5058051175 @default.
- W2587808805 hasAuthorship W2587808805A5065808074 @default.
- W2587808805 hasAuthorship W2587808805A5075086332 @default.
- W2587808805 hasConcept C102230213 @default.
- W2587808805 hasConcept C104317684 @default.
- W2587808805 hasConcept C127716648 @default.
- W2587808805 hasConcept C141035611 @default.
- W2587808805 hasConcept C14228908 @default.
- W2587808805 hasConcept C142669718 @default.
- W2587808805 hasConcept C142724271 @default.
- W2587808805 hasConcept C1491633281 @default.
- W2587808805 hasConcept C16005928 @default.
- W2587808805 hasConcept C170178370 @default.
- W2587808805 hasConcept C2778266373 @default.
- W2587808805 hasConcept C2778405274 @default.
- W2587808805 hasConcept C2781207856 @default.
- W2587808805 hasConcept C54355233 @default.
- W2587808805 hasConcept C71924100 @default.
- W2587808805 hasConcept C78383274 @default.
- W2587808805 hasConcept C81241287 @default.
- W2587808805 hasConcept C86803240 @default.
- W2587808805 hasConceptScore W2587808805C102230213 @default.
- W2587808805 hasConceptScore W2587808805C104317684 @default.
- W2587808805 hasConceptScore W2587808805C127716648 @default.
- W2587808805 hasConceptScore W2587808805C141035611 @default.
- W2587808805 hasConceptScore W2587808805C14228908 @default.
- W2587808805 hasConceptScore W2587808805C142669718 @default.