Identification of a new frameshift mutation (1801delAG) in the ALD gene

Human Molecular Genetics

Volumn 3, Issue 10, 1994, Pages 1889-1890

  Barcelo A ^d   Giros M ^a   Sarde, C O ^b   Martinez bermejo A ^c   Mandel, J L ^b   Pampols T ^a   Estivill, X ^d  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c HOSPITAL INFANTIL LA PAZ   (Spain)

^d HOSPITAL CLÍNIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOLEUKODYSTROPHY; AMINO ACID SEQUENCE; ARTICLE; CHILD; FRAMESHIFT MUTATION; HUMAN; MALE; PRIORITY JOURNAL;

ADRENOLEUKODYSTROPHY; AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CHILD; EXONS; FATTY ACIDS, NONESTERIFIED; FIBROBLASTS; FRAMESHIFT MUTATION; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; REFERENCE VALUES;

EID: 0027941551     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/3.10.1889     Document Type: Note

References (8)

1. Moser, H.W. and Moser, A. (1989) Sc river, C.R., Beaudet, A.L., Sly, W.S. and Valle, D. (eds), The Metabolic Basis of Inherited Disease McGraw-Hill, New York, pp. 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. 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.
4. Kamijo, K., Taketani S., Yokota S., Osumi T. and Hashimoto T. (1990) J. Biol. Chem. 265, 4534-4540.
5. Gartner, J., Moser H. and Valle D. (1992) Nature Genet. 1, 16-23.
6. Sarde C.O., Mosser J., Kioschis P., Kretz C., Vicaire S., Aubourg P., Poutska A.M. and Mandel J.L. (1994) Genomics 22, in press.
7. Fanen P., Guidoux S., Sarde C.O., Mandel J.L., Goossens M. and Aubourg P J B (1994) Clin. Invest, in press.
8. Uchiyama A., Suzuki Y., Song X., Fukao T., Imamura A., Tomatsu S., Shimozawa N., Kondo N. and Orii T. (1994) Biochem. Biophys. Res. Conumm. 198, 623-636.