Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis

Neurology

Volumn 48, Issue 3, 1997, Pages 746-751

  Orrell, Richard W ^a,d   Habgood, J J ^a   Gardiner, I ^a   King, A W ^a   Bowe, F A ^b   Hallewell, R A ^b   Marklund, S L ^c   Greenwood, J ^a   Lane, R J M ^a   DeBelleroche, J ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF ROCHESTER MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTIC ACID; COPPER ZINC SUPEROXIDE DISMUTASE; GLUTAMIC ACID;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CHROMOSOME 21; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME ACTIVITY; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMAN; LEG; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; PROGNOSIS; UNITED KINGDOM;

EID: 0030945491     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.48.3.746     Document Type: Article

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