A novel exon 5 mutation (N139H) in the SOD1 gene in a Spanish family associated with incomplete penetrance

Journal of the Neurological Sciences

Volumn 219, Issue 1-2, 2004, Pages 1-6

  Nogales Gadea, Gisela ^a,b   Garcia Arumi, Elena ^b   Andreu, Antonio L ^b   Cervera, Carlos ^a   Gamez, Josep ^a  

^a HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^b Laboratoris Clinics Hosp Vall d'H   (Spain)

Author keywords

ALS1; Familial amyotrophic lateral sclerosis; MIM 105400; N139H mutation; Penetrance; SOD1 gene

Indexed keywords

ADULT; AGED; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CLINICAL ARTICLE; DISEASE COURSE; ERYTHROCYTE; EXON; FAMILY; FEMALE; GENE ACTIVITY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; LEG MUSCLE; MALE; MISSENSE MUTATION; MOLECULAR DYNAMICS; ONSET AGE; PENETRANCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPAIN; SURVIVAL RATE; SURVIVAL TIME; TOPOGRAPHY;

AMINO ACID SEQUENCE; AMYOTROPHIC LATERAL SCLEROSIS; EXONS; FAMILY HEALTH; FEMALE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PENETRANCE; POINT MUTATION; SPAIN; SUPEROXIDE DISMUTASE;

EID: 1642569552     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2003.10.018     Document Type: Article

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