Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa.
Drera
B
B
Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, University of Brescia, viale Europa 11, 25123 Brescia, Italy.
Floriddia
G
G
Forzano
F
F
Barlati
S
S
Zambruno
G
G
Colombi
M
M
Castiglia
D
D
D000328:Adult; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D015870:Gene Expression; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics*; D012720:Severity of Illness Index
D024143:Collagen Type VII; D022821:RNA Splice Sites