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Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis
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1994
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NeurogenomicsGeneticsGenetic EpidemiologyMolecular BiologyDisease Gene IdentificationGenetic MedicineCu/zn Superoxide DismutaseClinical GeneticsMendelian DisorderNeurologyMolecular DiagnosticsNeurodegenerationExon 4Neurodegenerative DiseasesRare DiseasesAmyotrophic Lateral SclerosisGenetic DisorderJournal Article IdentificationMedical GeneticsMedicine
Journal Article Identification of a new missense point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD-1) gene in a family with amyotrophic lateral sclerosis Get access Alaa Elshafey, Alaa Elshafey * University Department of Medical Genetics, Duncan Guthrie Institute of Medical GeneticsGlasgow G3 8SJ, UK *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar W.George Lanyon, W.George Lanyon University Department of Medical Genetics, Duncan Guthrie Institute of Medical GeneticsGlasgow G3 8SJ, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar J.Mlchael Connor J.Mlchael Connor University Department of Medical Genetics, Duncan Guthrie Institute of Medical GeneticsGlasgow G3 8SJ, UK Search for other works by this author on: Oxford Academic PubMed Google Scholar Human Molecular Genetics, Volume 3, Issue 2, February 1994, Pages 363–364, https://doi.org/10.1093/hmg/3.2.363 Published: 01 February 1994 Article history Received: 13 September 1993 Revision received: 26 November 1993 Accepted: 26 November 1993 Published: 01 February 1994