Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

Neuromuscular Disorders

Volumn 6, Issue 5, 1996, Pages 361-366

  Hosler, Betsy A ^a   Nicholson, Garth A ^b   Sapp, Peter C ^a,c   Chin, Wendy ^a,c   Orrell, Richard W ^d   De Belleroche, Jackie S ^d   Esteban, Jesus ^a,e   Hayward, Lawrence J ^a   McKenna Yasek, Diane ^a   Yeung, Leone ^b   Cherryson, Annia K ^b   Dench, Joanne E ^f   Wilton, Steve D ^g   Laing, Nigel G ^g   Horvitz, H Robert ^c   Brown, Robert H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b UNIVERSITY OF SYDNEY   (Australia)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d Charing Cross   (United Kingdom)

^e INSTITUTO DE SALUD CARLOS III   (Spain)

^f ROYAL PERTH HOSPITAL   (Australia)

^g PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

Amyotrophic lateral sclerosis; Mutation; Neuromuscular disease; Superoxide dismutase

Indexed keywords

ASPARTIC ACID; COPPER ZINC SUPEROXIDE DISMUTASE; GLYCINE; VALINE;

AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; EXON; FAMILIAL DISEASE; GENE MUTATION; HUMAN; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

EID: 0343537868     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/0960-8966(96)00353-7     Document Type: Article

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