A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1)

Abstract

Journal Article A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1α gene (PDHA1) Get access Fumle Takakubo, Fumle Takakubo The Murdoch Institute for Research into Birth Defects, Royal Children's HospitalFlemington Road, Parkville, Victoria 3052, Melbourne, Australia Search for other works by this author on: Oxford Academic PubMed Google Scholar David R. Thorburn, David R. Thorburn The Murdoch Institute for Research into Birth Defects, Royal Children's HospitalFlemington Road, Parkville, Victoria 3052, Melbourne, Australia Search for other works by this author on: Oxford Academic PubMed Google Scholar Hans-Henrik, Hans-Henrik The Murdoch Institute for Research into Birth Defects, Royal Children's HospitalFlemington Road, Parkville, Victoria 3052, Melbourne, Australia Search for other works by this author on: Oxford Academic PubMed Google Scholar M. Dahl M. Dahl * The Murdoch Institute for Research into Birth Defects, Royal Children's HospitalFlemington Road, Parkville, Victoria 3052, Melbourne, Australia * To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 2, Issue 11, November 1993, Pages 1961–1962, https://doi.org/10.1093/hmg/2.11.1961 Published: 01 November 1993 Article history Received: 09 August 1993 Accepted: 18 August 1993 Published: 01 November 1993