Autosomal recessive epidermolysis bullosa simplex due to BP230 deficiency (Q106957)

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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.
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ID_1762624893
    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.

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      CID11:ID_1762624893
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      dki-india-ID_1762624893
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      Concluído
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      16 August 2026
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