A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa

Abstract

Journal Article A novel homozygous point mutation in the collagen VII gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa Get access M.G.S. Dunnill, M.G.S. Dunnill * 1MRC Clinical Research Centre, Northwick Park HospitalMiddlesex2St John's Institute of Dermatology, St Thomas' HospitalLondon SE1 7EH, UK *To whom correspondence should be addressed at: St John's Institute of Dermatology, St Thomas' Hospital, Lambeth Palace Rd, London SE1 7EH, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar A.J. Richards, A.J. Richards 1MRC Clinical Research Centre, Northwick Park HospitalMiddlesex Search for other works by this author on: Oxford Academic PubMed Google Scholar G. Mllana, G. Mllana 3Clinica Pediatrica, Universita di Catania6, Sicily, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar F. Mollica, F. Mollica 3Clinica Pediatrica, Universita di Catania6, Sicily, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar R.A.J. Eady, R.A.J. Eady 2St John's Institute of Dermatology, St Thomas' HospitalLondon SE1 7EH, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar F.M. Pope F.M. Pope 1MRC Clinical Research Centre, Northwick Park HospitalMiddlesex Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 9, September 1994, Pages 1693–1694, https://doi.org/10.1093/hmg/3.9.1693 Published: 01 September 1994 Article history Received: 25 May 1994 Revision received: 24 June 1994 Accepted: 24 June 1994 Published: 01 September 1994