Article
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito.
Nature genetics - 1 Jul 1996
Toriello H V, Glover T W, Takahara K, Byers P H, Miller D E, Higgins J V, Greenspan D S
Abstract excerpt
Ehlers-Danlos syndrome (EDS) is a genetically and pathogenetically heterogeneous group of disorders of which at least 11 types have been described. All are connective tissue disorders characterized by defects of the skin, ligaments and blood vessels with the clinical spectrum ranging from innocuo...
Topics
- Base Sequence
- Blotting, Northern
- Child
- Chromosomes, Human, Pair 9
- Collagen
- Ehlers-Danlos Syndrome
- Electrophoresis, Polyacrylamide Gel
- Humans
- Molecular Sequence Data
- Mutation
- Pigmentation Disorders
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Translocation, Genetic
- X Chromosome