title: Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.
authors.affiliation: Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, via dei Monti di Creta 104, I-00167 Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Covaciu
authors.forename: M
authors.initials: M
authors.lastname: Castori
authors.forename: N
authors.initials: N
authors.lastname: De Luca
authors.forename: P
authors.initials: P
authors.lastname: Ghirri
authors.forename: A
authors.initials: A
authors.lastname: Nannipieri
authors.forename: G
authors.initials: G
authors.lastname: Ragone
authors.forename: G
authors.initials: G
authors.lastname: Zambruno
authors.forename: D
authors.initials: D
authors.lastname: Castiglia
mesh_terms: D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006801:Humans; D017488:Hyperkeratosis, Epidermolytic / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D053550:Keratin-10 / Q000235:genetics*; D009154:Mutation; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: C507493:KRT10 protein, human; D022821:RNA Splice Sites; D053550:Keratin-10