Article
Molecular analysis of X-linked adrenoleukodystrophy patients.
Journal of the neurological sciences - 1 Jul 1995
Yasutake T, Yamada T, Furuya H, Shinnoh N, Goto I, Kobayashi T
Abstract excerpt
A molecular analysis of 4 Japanese adrenoleukodystrophy (ALD) patients was carried out, according to the recently published report on ALD gene cDNA. In a Southern blot analysis, we were not able to detect a large deletion in all patients. In a Northern blot analysis, no mRNA was detected in one patient, while the others had normal mRNA in both size and amount. Three patients had missense mutations including;...
Topics
- Adrenoleukodystrophy
- Adult
- Base Sequence
- Blotting, Northern
- Blotting, Southern
- Blotting, Western
- Cloning, Molecular
- DNA, Complementary
- Fibroblasts
- Genetic Linkage
- Humans