X-linked adrenoleukodystrophy (ALD): A novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

Biochemical and Biophysical Research Communications

Volumn 205, Issue 3, 1994, Pages 1638-1643

  Berger, Johannes ^a   Molzer, Brunhilde ^a   Faé, Ingrid ^a   Bernheimer, Hanno ^a  

^a UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 0028566461     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1006/bbrc.1994.2855     Document Type: Article

References (15)

1. Moser, H.W. and Moser, A.B. (1989) Adrenoleukodystrophy (X-linked). In Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., (eds), The Metabolic Basis of Inherited Disease. New York: MacGraw-Hill, 1989, 1511-1532.
2. 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.
3. Sarde, C.O., Mosser, J., Kioschis, P., Kretz, C., Vicaire, S., Aubourg, P., Poustka, A. and Mandel, J.L. (1994) Genomics 22, 13-20.
4. Cartier, N., Sarde, C.O., Douar, A.M., Mosser, J., Mandel, J.L. and Aubourg, P. Hum. Mol. Genet. 2, 1949-1951.
5. Fanen, P., Guidoux, S., Sarde, C.O., Mandel, J.L., Goossens, M. and Aubourg, P. J. Clin. Invest. 94, 516-520.
6. Kemp, S., Ligtenberg, M.J.L., van Geel, B.M., Barth P.G., Wolterman, R.A., Schoute, F., Sarde, C.O., Mandel, J.L., van Oost, B.A. and Bolhuis, P.A. (1994) Biochem. Bioph. Res. Comm. 202, 647-653.
7. Uchiyama, A., Suzuki, Y., Song, X.Q., Fukao, T., Imamura, A., Tomatsu, S., Shimozawa, N., Kondo, N. and Orii, T. (1994) Biochem. Bioph. Res. Comm. 198, 632-636.
8. Mosser, J., Lutz, Y., Stoeckel, M.E., Sarde, C.O., Kretz, C., Douar, A.M., Lopez, J., Aubourg, P. and Mandel, J.L. (1994) Hum. Mol. Genet. 3, 265-271.
9. Kobayashi, T., Yamada, T., Yasutake, T., Shinnoh, N., Goto, I. and Iwaki, T. (1994) Biochem. Bioph. Res. Comm. 201, 1029-1034.
10. Molzer, B., Bemheimer, H., Budka, H., Pilz, P. and Toifl, K. (1981) J. Neurol. Sci. 51, 301-310.
11. Molzer, B., Bemheimer, H., Heller, R., Toifl, K. and Vetterlein, M. (1981) Clin. Chim. Acta 125, 299-305.
12. Sambook, J., Fritsch, E.F. and Maniatis, T. (1982) Molecular cloning: A laboratory manual 2nd edn Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York.
13. Berger, J., Molzer, B., Gieselmann, V. and Bemheimer H. (1993) Hum. Genet. 92, 421-423.
14. Chomcynski, P. and Sacchi, N. (1987) Anal. Biochem. 162, 156-159.
15. Moser, H.W., Moser, A.B., Smith, K.D., Bergin, A., Borel, J., Shankoff, J., Stine, O.C., Merette, C., Ott, J., Krivit, W. and Shapiro, E. (1992) J. Inher. Metab. Dis. 15, 645-664.