Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10.
Covaciu
C
C
Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata-IRCCS, via dei Monti di Creta 104, I-00167 Rome, Italy.
Castori
M
M
De Luca
N
N
Ghirri
P
P
Nannipieri
A
A
Ragone
G
G
Zambruno
G
G
Castiglia
D
D
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*
C507493:KRT10 protein, human; D022821:RNA Splice Sites; D053550:Keratin-10