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    Research 10 of 873

    1. Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa The American Journal of Human Genetics · 1997 · 80 citations
    2. 302 Availability of mRNA Obtained from Peripheral Blood Mononuclear Cells for Mutational Analysis in Dystrophic Epidermolysis Bullosa Journal of Investigative Dermatology · 2022
    3. Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa 2022 · 5 citations
    4. A homozygous nonsense mutation identified in <i>COL7A1</i> in a family with autosomal recessive dystrophic epidermolysis bullosa Journal of Medicine and Life · 2024
    5. 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation Journal of Investigative Dermatology · 2022
    6. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    7. 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes 2017 · 5 citations
    8. Scarring Alopecia in Localized Dystrophic Epidermolysis Bullosa: A Case Report and a Scoping Review Cureus · 2025
    9. Comparative ubiquitinomics of human skin reveals insulin receptor ubiquitination as a regulator of collagen secretion Communications Biology · 2026
    10. Type XVII collagen coordinates proliferation in the interfollicular epidermis eLife · 2017 · 124 citations
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