Autosomal recessive epidermolysis bullosa simplex due to BP230 deficiency (Q106957): Difference between revisions
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Revision as of 13:57, 17 August 2026
A mild autosomal recessive form of EBS due mutations in the DST gene which result in an absence of bullous pemphigoid antigen-1 (BP230) in basal keratinocytes.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1762624893 |
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| English | Autosomal recessive epidermolysis bullosa simplex due to BP230 deficiency |
A mild autosomal recessive form of EBS due mutations in the DST gene which result in an absence of bullous pemphigoid antigen-1 (BP230) in basal keratinocytes. |
