Novel 4-bp Insertion in Exon 5 of the CuZn-Superoxide Dismutase (SODl) Gene Associated With Familial Amyotrophic Lateral Sclerosis

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Hansen, Claus ^a   Gredal, Ole ^b   Werdelin, Lene ^c   Andersen, Peter M ^e   Marklund, Stefan L ^e   Nilsson, Peter ^e   Petersen, Michael B ^d   Brondum Nielsen, Karen ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b Sct Hans Hospital   (Denmark)

^c FREDERIKSBERG HOSPITAL   (Denmark)

^d AGHIA SOPHIA CHILDREN S HOSPITAL   (Greece)

^e UMEÅ UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 23544462828     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380111106     Document Type: Note

References (4)

1. Andersen PM, Forsgren L, Binzer M, Nilsson E Ala-Hurula V, Yeranen ML, Bergmark L, Saarinen A, Haltia 'C Tarvainen 1, Kinnunen E. Udd B, Marklund SL (1996) Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90Ala CuZn-superoxide dismutase mutation. Brain 119:1153-1172.
2. Guldberg F: Giittler F (1994) "Broad-range" DGGE for single-step mutation scanning of entire genes: application to human phenylalanine hydroxylase gene. Nucleic Acids Res 22:880681.
3. Marklund SL, Greenwald RA (1985) Direct assay of superoxide dismutase with potassium superoxide. In Marklund SL, Greenwald RA (eds): Handbook of Methods for Oxygen Radical Research. Boca Raton. FL: CRC, pp 249-255.
4. Siddique T, Deng H-X (1996) Genetics of amyotrophic lateral sclerosis. Hum Mol Genet 51465-1470.