Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system

Journal Article Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine β-synthase using an improved bacterial expression system Get access Raffaella de Franchis, Raffaella de Franchis Search for other works by this author on: Oxford Academic PubMed Google Scholar Viktor Kožich, Viktor Kožich Search for other works by this author on: Oxford Academic PubMed Google Scholar Roderick R. Mcinnes, Roderick R. Mcinnes 1Departments of Pediatrics and Genetics, The Hospital for Sick ChildrenToronto, Ontario M5G 1X8, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar Jan P. Kraus Jan P. Kraus * *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 7, July 1994, Pages 1103–1108, https://doi.org/10.1093/hmg/3.7.1103 Published: 01 July 1994 Article history Received: 07 March 1994 Revision received: 16 May 1994 Accepted: 16 May 1994 Published: 01 July 1994