A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa

Abstract

Journal Article A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa Get access Christian Baudoin, Christian Baudoin 1U385 INSERM, Faculté de Médecine06107 Nice cedex 2 Search for other works by this author on: Oxford Academic PubMed Google Scholar Corinne Miquel, Corinne Miquel 1U385 INSERM, Faculté de Médecine06107 Nice cedex 2 Search for other works by this author on: Oxford Academic PubMed Google Scholar Laurent Gagnoux-Palacios, Laurent Gagnoux-Palacios 1U385 INSERM, Faculté de Médecine06107 Nice cedex 2 Search for other works by this author on: Oxford Academic PubMed Google Scholar Leena Pulkkinen, Leena Pulkkinen 3Departments of Dermatology, and Biochemistry and Molecular Biology, Thomas Jefferson UniversityPhiladelphia, PA 19107, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Angela M. Christiano, Angela M. Christiano 3Departments of Dermatology, and Biochemistry and Molecular Biology, Thomas Jefferson UniversityPhiladelphia, PA 19107, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Jouni Uitto, Jouni Uitto 3Departments of Dermatology, and Biochemistry and Molecular Biology, Thomas Jefferson UniversityPhiladelphia, PA 19107, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Gianluca Tadini, Gianluca Tadini 4Center for Inherited Cutaneous Diseases, University of MilanMilan, Italy Search for other works by this author on: Oxford Academic PubMed Google Scholar Jean-Paul Ortonne, Jean-Paul Ortonne 1U385 INSERM, Faculté de Médecine06107 Nice cedex 22Service de Dermatologie, H⊙pital Pasteur06002 Nice cedex 1, France Search for other works by this author on: Oxford Academic PubMed Google Scholar Guerrino Meneguzzl Guerrino Meneguzzl * 1U385 INSERM, Faculté de Médecine06107 Nice cedex 2 * To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 10, October 1994, Pages 1909–1910, https://doi.org/10.1093/hmg/3.10.1909 Published: 01 October 1994 Article history Received: 29 June 1994 Revision received: 11 August 1994 Accepted: 11 August 1994 Published: 01 October 1994