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

    Mutations in the adrenoleukodystrophy gene.

    Dodd A, Rowland SA, Hawkes SL, Kennedy MA, Love DR.

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

    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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