Article
Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.
Proceedings of the Association of American Physicians - 1 Jul 1997
Yeowell H N, Walker L C
Abstract excerpt
We have characterized a patient with Ehlers-Danlos syndrome type VI as a compound heterozygote for the lysyl hydroxylase (LH) gene, with a pathogenetic mutation in each allele contributing to the very low levels of mRNA and LH activity in his fibroblasts. Amplification of full-length LH cDNAs res...
Topics
- Alleles
- Base Sequence
- Blotting, Southern
- Cells, Cultured
- Child, Preschool
- DNA, Complementary
- Diagnosis, Differential
- Ehlers-Danlos Syndrome
- Genetic Testing
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
- RNA, Messenger
- Sensitivity and Specificity