A novel ALS SOD1 C6S mutation with implications for aggregation related toxicity and genetic counseling

Amyotrophic Lateral Sclerosis

Volumn 12, Issue 3, 2011, Pages 215-219

  Brotherton, Terrell ^a   Polak, Meraida ^a   Kelly, Crystal ^a   Birve, Anna ^b   Andersen, Peter ^b   Marklund, Stefan L ^b   Glass, Jonathan D ^a,c  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UMEÅ UNIVERSITY   (Sweden)

^c NONE   (United States)

Author keywords

Genetics; risk; SOD1

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; CYSTEINE; SERINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; DISEASE DURATION; ENZYME ACTIVITY; ERYTHROCYTE; FEMALE; GENE MUTATION; GENETIC COUNSELING; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PEDIGREE; PRIORITY JOURNAL; PROTEIN AGGREGATION;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; CYSTEINE; DISULFIDES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC COUNSELING; GENETIC TESTING; GENOTYPE; HUMANS; MALE; MUTATION; PEDIGREE; SERINE; SUPEROXIDE DISMUTASE;

EID: 79955760443     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2010.531279     Document Type: Article

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