Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1).

Autor: Wen D; Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Adult Epidermolysis Bullosa Unit, Department of Dermatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Balacco DL; Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK., Bardhan A; Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Adult Epidermolysis Bullosa Unit, Department of Dermatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Harper N; Adult Epidermolysis Bullosa Unit, Department of Dermatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK., Walsh D; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Ryan G; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Liu L; National Diagnostic EB Laboratory, Viapath, St Thomas' Hospital, London, UK., Guy A; National Diagnostic EB Laboratory, Viapath, St Thomas' Hospital, London, UK., McGrath JA; National Diagnostic EB Laboratory, Viapath, St Thomas' Hospital, London, UK., Ogboli M; Paediatric Epidermolysis Bullosa Unit, Department of Paediatric Dermatology, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Heagerty AHM; Adult Epidermolysis Bullosa Unit, Department of Dermatology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.; Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
Jazyk: angličtina
Zdroj: Clinical and experimental dermatology [Clin Exp Dermatol] 2022 Feb; Vol. 47 (2), pp. 497-502. Date of Electronic Publication: 2021 Nov 21.
DOI: 10.1111/ced.14917
Databáze: MEDLINE
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