Article
A patient with Ehlers-Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene.
The Journal of clinical investigation - 1 Apr 1994
Ha V T, Marshall M K, Elsas L J, Pinnell S R, Yeowell H N
Abstract excerpt
In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers-Danlos syndrome type VI (EDS VI). We have identified a putative mutation in each allele which may be responsible for the...
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cells, Cultured
- DNA, Complementary
- Ehlers-Danlos Syndrome
- Female
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
- Restriction Mapping