Article
X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes.
Biochemical and biophysical research communications - 30 Dec 1994
Berger J, Molzer B, Faé I, Bernheimer H
Abstract excerpt
Fragments of the adrenoleukodystrophy (ALD) cDNA from a patient with adolescent ALD were amplified by polymerase chain reaction and subcloned. Bidirectional sequencing of the entire coding ALD gene disclosed a cytosine to guanine transversion at nucleotide 1451 in exon five, resulting in substitu...
Topics
- Adolescent
- Adrenoleukodystrophy
- Adult
- Base Sequence
- Child
- Cloning, Molecular
- DNA Primers
- DNA, Complementary
- Exons
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Point Mutation
- X Chromosome