Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria

Abstract

Journal Article Identification of a single base pair deletion (40 del G) in exon 1 of the ferrochelatase gene in patients with erythropoietic protoporphyria Get access David J. Todd, David J. Todd * 1Department of Medical Genetics, Queen's University of Belfast BT9 7AB and BT 12 6AB2Department of Dermatology, Royal Victoria HospitalBelfast BT12 6BA, UK *Department of Medical Genetics, Floor A, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Anne E. Hughes, Anne E. Hughes 1Department of Medical Genetics, Queen's University of Belfast BT9 7AB and BT 12 6AB Search for other works by this author on: Oxford Academic PubMed Google Scholar Kevin T. Ennls, Kevin T. Ennls 1Department of Medical Genetics, Queen's University of Belfast BT9 7AB and BT 12 6AB Search for other works by this author on: Oxford Academic PubMed Google Scholar Alana J. Ward, Alana J. Ward 1Department of Medical Genetics, Queen's University of Belfast BT9 7AB and BT 12 6AB Search for other works by this author on: Oxford Academic PubMed Google Scholar Desmond Burrows, Desmond Burrows 2Department of Dermatology, Royal Victoria HospitalBelfast BT12 6BA, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Norman C.Nevin Norman C.Nevin 1Department of Medical Genetics, Queen's University of Belfast BT9 7AB and BT 12 6AB Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 2, Issue 9, September 1993, Pages 1495–1496, https://doi.org/10.1093/hmg/2.9.1495 Published: 01 September 1993 Article history Received: 13 May 1993 Revision received: 14 July 1993 Accepted: 14 July 1993 Published: 01 September 1993