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Hum Mutat. 1997;9(6):500-11.

Mutations in the adrenoleukodystrophy gene.

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  • 1School of Biological Sciences, University of Auckland, New Zealand.

Abstract

Adrenoleukodystrophy (ALD) is a peroxisomal disorder that commonly manifests as demyelination of the central nervous system (CNS). The isolation of the ALD gene by positional cloning has led to the identification of a variety of mutations in the ALD gene. One hundred and ten mutations have been identified to date, of which approximately 50% are missense mutations. While rapid DNA-based diagnoses of ALD is now possible, there appears to be no simple correlation between genotype and phenotype.

PMID:
9195223
[PubMed - indexed for MEDLINE]
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