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
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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