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Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).
Institut für Humagenetik, Medizinische Universität, Lübeck, Germany.
PMID: 7849723 [PubMed - indexed for MEDLINE]
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Cited by 2 PubMed Central articles
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Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.
Feigenbaum V, Lombard-Platet G, Guidoux S, Sarde CO, Mandel JL, Aubourg P.
Am J Hum Genet. 1996 Jun; 58(6):1135-44.
[Am J Hum Genet. 1996]
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Altered expression of ALDP in X-linked adrenoleukodystrophy.
Watkins PA, Gould SJ, Smith MA, Braiterman LT, Wei HM, Kok F, Moser AB, Moser HW, Smith KD.
Am J Hum Genet. 1995 Aug; 57(2):292-301.
[Am J Hum Genet. 1995]