Identification of two novel mutations in the Cu/Zn superoxide dismutase gene with familial amyotrophic lateral sclerosis: Mass spectrometric and genomic analyses

Journal of the Neurological Sciences

Volumn 218, Issue 1-2, 2004, Pages 79-83

  Sato, Takako ^a   Yamamoto, Yoichi ^a   Nakanishi, Toyofumi ^b   Fukada, Kei ^a   Sugai, Fuminobu ^a   Zhou, Zhiwei ^a   Okuno, Tatsusada ^a   Nagano, Seiichi ^a   Hirata, Shuji ^c   Shimizu, Akira ^b   Sakoda, Saburo ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OSAKA MEDICAL COLLEGE   (Japan)

^c HYOGO PREFECTURAL AWAJI HOSPITAL   (Japan)

Author keywords

Amyotrophic lateral sclerosis (ALS); Cu Zn superoxide dismutase (SOD1); Familial ALS (fALS); Genomic analysis; Liquid chromatography electrospray ionization mass spectrometry (LC ESI MS); Missense mutation

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; MUTANT PROTEIN;

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTROSPRAY MASS SPECTROMETRY; EXON; FAMILIAL DISEASE; FAMILY HISTORY; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LIQUID CHROMATOGRAPHY; MALE; MASS SPECTROMETRY; PATHOGENESIS; PRIORITY JOURNAL; SUPEROXIDE DISMUTASE 1 GENE;

EID: 10744228077     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2003.11.003     Document Type: Article

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