A novel T137A SOD1 mutation in an Italian family with two subjects affected by amyotrophic lateral sclerosis

Amyotrophic Lateral Sclerosis

Volumn 12, Issue 5, 2011, Pages 385-388

  Visani, Michela ^a   De Biase, Dario ^a   Bartolomei, Ilaria ^b   Plasmati, Rosaria ^b   Morandi, Luca ^a   Cenacchi, Giovanna ^c   Salvi, Fabrizio ^b   Pession, Annalisa ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b BELLARIA HOSPITAL   (Italy)

^c UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Amyotrophic lateral sclerosis; SOD1 mutation; T137A

Indexed keywords

ALANINE; COPPER ZINC SUPEROXIDE DISMUTASE; DNA; THREONINE;

ADULT; AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; DNA EXTRACTION; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; EXON; FAMILIAL DISEASE; FASCICULATION; FEMALE; FOLLOW UP; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; LIMB WEAKNESS; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUSCLE BIOPSY; MUSCLE CRAMP; NEUROLOGIC EXAMINATION; PRIORITY JOURNAL;

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; BASE SEQUENCE; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, SECONDARY; SUPEROXIDE DISMUTASE;

EID: 80053943188     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.3109/17482968.2011.582648     Document Type: Article

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