Article
Mutations in the gene for X-linked adrenoleukodystrophy in patients with different clinical phenotypes.
American journal of human genetics - 1 Apr 1995
Braun A, Ambach H, Kammerer S, Rolinski B, Stöckler S, Rabl W, Gärtner J, Zierz S, Roscher A A
Abstract excerpt
Recently, the gene for the most common peroxisomal disorder, X-linked adrenoleukodystrophy (X-ALD), has been described encoding a peroxisomal membrane transporter protein. We analyzed the entire protein-coding sequence of this gene by reverse-transcription PCR, SSCP, and DNA sequencing in five patients with different clinical expression of X-ALD and in their female relatives; these clinical expressions were...
Topics
- Adrenoleukodystrophy
- Base Sequence
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymorphism, Single-Stranded Conformational