A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis

J Inherit Metab Dis. 1992;15(3):426-30. doi: 10.1007/BF02435995.

Authors

P H Johnson¹, A J Richards, F M Pope, D A Hopkinson

Affiliation

¹ MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London, UK.

PMID: 1357232
DOI: 10.1007/BF02435995

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Base Sequence
Cloning, Molecular
Collagen / chemistry
Collagen / genetics*
DNA / chemistry
DNA / genetics
Ehlers-Danlos Syndrome / genetics*
Electrophoresis
Female
Glutamates / genetics*
Glutamic Acid
Glycine / genetics*
Humans
Molecular Sequence Data
Mutation*
Nucleic Acid Denaturation
Nucleic Acid Heteroduplexes
Polymerase Chain Reaction

Substances

Glutamates
Nucleic Acid Heteroduplexes
Glutamic Acid
Collagen
DNA
Glycine