Article
Diverse mutations in patients with Menkes disease often lead to exon skipping.
American journal of human genetics - 1 Nov 1994
Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J
Abstract excerpt
Fibroblast cultures from 12 unrelated patients with classical Menkes disease were analyzed for mutations in the MNK gene, by reverse transcription-PCR (RT-PCR) and chemical cleavage mismatch detection. Mutations were observed in 10 patients, and in each case a different mutation was present. All...
Topics
- Base Sequence
- Cell Line
- Chromosome Aberrations
- Cloning, Molecular
- Exons
- Humans
- Menkes Kinky Hair Syndrome
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymerase Chain Reaction