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Dystrophic epidermolysis bullosa: genotype-phenotype correlations

Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene. The disease characterized by clinical heterogeneity. To date, scientific findings allow to evaluate correlations between the severity of clinical manifestations and genetic defects underlying in the development of the diseas...

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Principais autores: Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. karamova
Formato: Artigo
Idioma:Inglês
Publicado: State Scientific Center of Dermatovenereology and Cosmetology 2023-10-01
Series:Vestnik Dermatologii i Venerologii
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Acceso en liña:https://vestnikdv.ru/jour/article/viewFile/13281/pdf_2
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