Associated Papers
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Natale MI et al.
American Journal of Medical Genetics. Part A, 2022
Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa.
Aguado T et al.
Cells, 2020
32947957 (PubMed )
Supplement: cells-09-02108-s001.zip › cells-911863_supplementary › Supp_Table_1.xls › Hoja2
Fibroblast activation and abnormal extracellular matrix remodelling as common hallmarks in three cancer-prone genodermatoses.
Chacón-Solano E et al.
The British Journal of Dermatology, 2019
30693469 (PubMed )
Supplement: BJD-181-512-s003.xlsx › b__Validation_samples
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.
Cuadrado-Corrales N et al.
Bmc Medical Genetics, 2010
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ et al.
The British Journal of Dermatology, 2010
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