Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
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ABSTRACT:
SUBMITTER: Panzaru MC
PROVIDER: S-EPMC9222206 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
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Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru Monica-Cristina MC Caba Lavinia L Florea Laura L Braha Elena Emanuela EE Gorduza Eusebiu Vlad EV
Diagnostics (Basel, Switzerland) 20220527 6
Epidermolysis bullosa is a heterogeneous group of rare genetic disorders characterized by mucocutaneous fragility and blister formation after minor friction or trauma. There are four major epidermolysis bullosa types based on the ultrastructural level of tissue cleavage: simplex, junctional, dystrophic, and Kindler epidermolysis bullosa. They are caused by mutations in genes that encode the proteins that are part of the hemidesmosomes and focal adhesion complex. Some of these disorders can be as ...[more]
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Project description:This SuperSeries is composed of the SubSeries listed below.
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