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Identification of a new frameshift mutation (1801delAG) in the ALD gene.
Barceló A, Girós M, Sarde CO, Martínez-Bermejo A, Mandel JL, Pàmpols T, Estivill X. Barceló A, et al. Hum Mol Genet. 1994 Oct;3(10):1889-90. doi: 10.1093/hmg/3.10.1889. Hum Mol Genet. 1994. PMID: 7849718 No abstract available.
Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A. Fuchs S, et al. Hum Mol Genet. 1994 Oct;3(10):1903-5. doi: 10.1093/hmg/3.10.1903. Hum Mol Genet. 1994. PMID: 7849723 No abstract available.
cDNA sequence of Aldgh, the mouse homolog of the X-linked adrenoleukodystrophy gene.
Sarde CO, Thomas J, Sadoulet H, Garnier JM, Mandel JL. Sarde CO, et al. Mamm Genome. 1994 Dec;5(12):810-3. doi: 10.1007/BF00292021. Mamm Genome. 1994. PMID: 7894167 No abstract available.
A close relative of the adrenoleukodystrophy (ALD) gene codes for a peroxisomal protein with a specific expression pattern.
Lombard-Platet G, Savary S, Sarde CO, Mandel JL, Chimini G. Lombard-Platet G, et al. Among authors: sarde co. Proc Natl Acad Sci U S A. 1996 Feb 6;93(3):1265-9. doi: 10.1073/pnas.93.3.1265. Proc Natl Acad Sci U S A. 1996. PMID: 8577752 Free PMC article.
Two intronic mutations in the adrenoleukodystrophy gene.
Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Sarde CO, van Oost BA, Bolhuis PA. Kemp S, et al. Hum Mutat. 1995;6(3):272-3. doi: 10.1002/humu.1380060316. Hum Mutat. 1995. PMID: 8535452 No abstract available.
Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations.
Kemp S, Ligtenberg MJ, van Geel BM, Barth PG, Wolterman RA, Schoute F, Sarde CO, Mandel JL, van Oost BA, Bolhuis PA. Kemp S, et al. Biochem Biophys Res Commun. 1994 Jul 29;202(2):647-53. doi: 10.1006/bbrc.1994.1979. Biochem Biophys Res Commun. 1994. PMID: 8048932
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