Article
De novo missense mutation Y174S in exon 1 of the adrenoleukodystrophy (ALD) gene.
Human genetics - 1 Feb 1995
Barceló A, Girós M, Sarde C O, Pintos G, Mandel J L, Pàmpols T, Estivill X
Abstract excerpt
Adrenoleukodystrophy (ALD) is an X-linked disease, characterised by an alteration of the peroxisomal beta-oxidation of the very long chain fatty acids. The ALD gene has been identified and mutations have been detected in ALD patients. We report here a new missense mutation in the ALD gene of a male patient, predicting a tyrosine to serine substitution at codon 174 (mutation Y174S). The mother of the ALD patient...
Topics
- Adrenoleukodystrophy
- Base Sequence
- Child, Preschool
- Exons
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction