Article
Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I.
Human molecular genetics - 1 Feb 1998
Michalickova K, Susic M, Willing M C, Wenstrup R J, Cole W G
Abstract excerpt
Ehlers-Danlos syndrome (EDS) is a heterogeneous connective tissue disorder that severely impairs the structure and function of the skin, joints, eyes and blood vessels. We have identified mutations of the COL5A2 gene, which encodes the alpha2(V) chain of type V collagen, in two unrelated patients...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Bone and Bones
- Cells, Cultured
- Collagen
- DNA Mutational Analysis
- Ehlers-Danlos Syndrome
- Exons
- Extracellular Matrix
- Heterozygote
- Humans
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Sequence Deletion
- Skin