A new metabolic path in type 3 rickets.

Abstract excerpt

Rickets, a disorder of bone formation, was originally known as nutritional rickets due to vitamin D deficiency. Advances in science have since identified various genetic forms, typically involving loss-of-function mutations in vitamin D activation or other mineral metabolism pathways. Recently, type 3 rickets was identified as a previously undescribed gain-of-function mutation in CYP3A4 (Ile301Thr). This mutant...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to CYP3A4 gene
• Share to Mutation
• Share to Rickets