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Mutations in the adrenoleukodystrophy gene

✍ Scribed by Andrew Dodd; Shelley A. Rowland; Sheryl L. J. Hawkes; Martin A. Kennedy; Donald R. Love

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 182 KB
Volume: 9
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1997)9:6<500::aid-humu2>3.0.co;2-5

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✦ Synopsis

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. Hum. Mutat. 9:500-511, 1997.

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