Genetic diversity of epidermolysis bullosa in Russian patients
https://doi.org/10.25557/2073-7998.2021.11.45-48
Abstract
Epidermolysis bullosa (EB) is the group of rare genodermatoses and is characterized by high genetic heterogeneity. The article presents the first results of the examination of 305 Russian patients with epidermolysis bullosa. The 217 genetic variants were identified in 8 genes - KRT5, KRT14, KLHL24, COL17A1, LAMB3, COL7A1, FERMT1, TGM5. The 96 (44.2%) variants from the 217 were identified for the first time. The genetic diversity of the identified variants in different clinical types of EB is considered.
About the Author
Yu. Yu. Kotalevskaya
Moscow Regional Research and Clinical Institute (“MONIKI”)
Russian Federation
Russian Federation
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Review
For citations:
Kotalevskaya Yu.Yu. Genetic diversity of epidermolysis bullosa in Russian patients. Medical Genetics. 2021;20(11):45-48. (In Russ.) https://doi.org/10.25557/2073-7998.2021.11.45-48
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