TY  - GEN
AU  - Kato,M
AU  - Aoki,M
AU  - Ohta,M
AU  - Nagai,M
AU  - Ishizaki,F
AU  - Nakamura,S
AU  - Itoyama,Y
TI  - Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation
SN  - 0304-3940
PY  - 2001///1218
KW  - Adult
KW  - Aged
KW  - Amyotrophic Lateral Sclerosis
KW  - blood
KW  - DNA Mutational Analysis
KW  - Down-Regulation
KW  - genetics
KW  - Erythrocytes
KW  - metabolism
KW  - Exons
KW  - Female
KW  - Genetic Testing
KW  - Homozygote
KW  - Humans
KW  - Japan
KW  - Male
KW  - Middle Aged
KW  - Mutation, Missense
KW  - Pedigree
KW  - Phenotype
KW  - Superoxide Dismutase
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/s0304-3940(01)02212-1
ER  -