Article
Mutations in the adrenoleukodystrophy gene.
Human mutation - 1 Jan 1997
Dodd A, Rowland S A, Hawkes S L, Kennedy M A, Love D R
Abstract excerpt
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...
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