Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD)
Abstract
Sigrid Fuchs, Claude Olivier Sarde, Heike Wedemann, Eberhard Schwinger, Jean Louis Mandel, Andreas Gal; Missense mutations are frequent in the gene for X-c
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In exon 6 of ABCD1, a silent G/A nucleotide polymorphism is present at cDNA position 1548 (L516L).
“In exon 6, a silent G/A nucleotide polymorphism is present at cDNA position 1548 (L516L) [Fuchs et al., 1994;Kemp et al., 1994].”
From ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations (2001) · cites this paper as Fuchs et al., 1994
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Shapiro, E., Krivit, W., Lockman, L., Jambaqué, I., Peters, C., Cowan, M., Harris, R., Blanche, S., Bordigoni, P., Loes, D., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02629-5 · Cited by 329 · see citing works
Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation · doi:10.1002/humu.1227 · Cited by 332 · see citing works
Eichler, E. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.7.991 · Cited by 143 · see citing works
Expression of the adrenoleukodystrophy protein in the human and mouse central nervous system
Fouquet, F., Zhou, J. M., Ralston, E., Murray, K., Troalen, F., Magal, E., Robain, O., Dubois-Dalcq, M., & Aubourg, P. (1997) · Neurobiology of Disease · doi:10.1006/nbdi.1997.0127 · Cited by 115 · see citing works
Braiterman, L. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.2.239 · Cited by 98 · see citing works
Unterrainer, G. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.18.2609 · Cited by 30 · see citing works
Dvoráková, L., Štorkánová, G., Unterrainer, G., Hujová, J., Kmoch, S., Zeman, J., Hrebícek, M., & Berger, J. (2001) · Human Mutation · doi:10.1002/humu.1149 · Cited by 23 · see citing works
- Authors
- Fuchs, S., Sarde, C. O., Wedemann, H., Schwinger, E., Mandel, J. L., & Gal, A.
- Affiliations
- University of Lübeck (DE)
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Fuchs, Sigrid
- ORCID
- Mandel, Jean Louis
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1994
- Volume
- 3
- Issue
- 10
- Pages
- 1903-1905
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W1970673448
- Cited by
- 57
- References
- 0
- Citations by year
- 2025: 1 · 2024: 3 · 2023: 2 · 2022: 2 · 2017: 3 · 2015: 1
- FWCI
- 6.24
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- Funders
- Deutsche Forschungsgemeinschaft
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked adrenoleukodystrophy, ABCD1 gene, missense mutations, mutation frequency, X chromosome
- MeSH terms
- ATP Binding Cassette Transporter, Subfamily D, Member 1, Adrenoleukodystrophy, Amino Acid Sequence, Base Sequence, Codon, Exons, Female, Humans, Male, Membrane Proteins, Molecular Sequence Data, Pedigree, X Chromosome, Restriction Mapping, Polymerase Chain Reaction, Conserved Sequence, Point Mutation, DNA Primers, ATP-Binding Cassette Transporters
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