Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels

Abstract

Journal Article Identification of a homozygous missense mutation (Arg to Gly) in the critical binding region of the human EC-SOD gene (SOD3) and its association with dramatically increased serum enzyme levels Get access Rodney J. Folz, Rodney J. Folz * 1Department of Medicine Duke University Medical CenterDurham, NC 27710, USA * To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Laura Peno-Green, Laura Peno-Green 1Department of Medicine Duke University Medical CenterDurham, NC 27710, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar James D. Crapo James D. Crapo 1Department of Medicine Duke University Medical CenterDurham, NC 27710, USA2Department of Pathology, Duke University Medical CenterDurham, NC 27710, USA Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 12, December 1994, Pages 2251–2254, https://doi.org/10.1093/hmg/3.12.2251 Published: 01 December 1994 Article history Received: 02 August 1994 Accepted: 07 October 1994 Published: 01 December 1994