Article
Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group.
Biochimica et biophysica acta - 12 Apr 1996
Motley A M, Tabak H F, Smeitink J A, Poll-The B T, Barth P G, Wanders R J
Abstract excerpt
Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of reporter-protein-encoding expression plasmids to show that peroxisomal thiolase...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.