Article
Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.
American journal of medical genetics - 3 Oct 1997
Byers P H, Duvic M, Atkinson M, Robinow M, Smith L T, Krane S M, Greally M T, Ludman M, Matalon R, Pauker S, Quanbeck D, Schwarze U
Abstract excerpt
Ehlers-Danlos syndrome (EDS) type VII results from defects in the conversion of type I procollagen to collagen as a consequence of mutations in the substrate that alter the protease cleavage site (EDS type VIIA and VIIB) or in the protease itself (EDS type VIIC). We identified seven additional fa...
Topics
- Adult
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- Collagen
- DNA Primers
- Ehlers-Danlos Syndrome
- Exons
- Female
- Humans
- Infant, Newborn
- Male