Identification of a nonsense mutation in ALD protein cDNA from a patient with adrenoleukodystrophy

Biochemical and Biophysical Research Communications

Volumn 198, Issue 2, 1994, Pages 632-636

  Uchiyama, Atsushi ^a   Suzuki, Yasuyuki ^a   Song, Xiang Qian ^a   Fukao, Toshiyuki ^a   Imamura, Atsushi ^a   Tomatsu, Shunji ^a   Shimozawa, Nobuyuki ^a   Kondo, Naomi ^a   Orii, Tadao ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0028339093     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1994.1092     Document Type: Article

References (9)

1. Moser, H.W., and Moser, A.B. (1989) In The Metabolic Basis of Inherited Disease (Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D. Eds.), pp.1511-1532. McGraw-Hill, New York.
2. Moser, H.W., Moser, A.B., Smith, K.D., Bergin, A., Borel, J., Shankroff, J., Stine, O.C., Merette, C., Ott, J., Krivit, W., and Shapiro, E. (1992) J. Inher. Metab. Dis. 15, 645-664.
3. Hashmi, M„ Stanley, W., and Singh, I. (1986) FEBS Lett. 86, 247-250.
4. Igarashi, M., Schaumburg, H.H., Powers, J., Kishimoto, Y., Kolodny, E., and Suzuki, K. (1976) J. Neurochem. 26, 851-860.
5. Mosser, J., Douar, A-M., Sarde, C-O., Kioschis, P., Feil, R., Moser, H., Poustka, A-M., Mandel, J-L., and Aubourg, P. (1993) Nature 361, 726-730.
6. Sanger, F., Nicklen, S., and Coulson, A.R. (1977) Proc. Natl. Acad. Sci. U.S.A. 74, 5463.
7. 5467.
8. Kamijo, K., Taketani, S., Yokota, S., Osumi T., and Hashimoto, T. (1990) J. Biol. Chem. 265, 4534-4540.
9. Maestri, N.E., and Beaty, T.H. (1992) Am. J. Med. Genet. 44, 576-582.