Article
The genetic bases of the porphyrias.
Skin pharmacology and applied skin physiology - 1 Jan 2000
Frank J, Christiano A M
Abstract excerpt
The porphyrias are disorders that result from the inherited or acquired dysregulation of one of the eight enzymes in the porphyrin-heme biosynthetic pathway. The different types of porphyrias often show overlapping findings with regard to clinical and/or biochemical features. Therefore, the establishment of screening methods for the identification of underlying mutations on the basis of direct DNA analysis may...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.