Brittle bones--fragile molecules: disorders of collagen gene structure and expression.

Abstract excerpt

Mutations in the genes that encode the chains of type I collagen, the major structural protein in most tissues, usually produce brittle bones. The consequences of even apparently minor mutations--single base substitutions--can range from lethal to mild, and the phenotypic consequences reflect the nature and position of the mutation. The manner in which phenotypes are produced depends on the effect of the mutation...

Topics

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

• Share to Base Sequence
• Share to Collagen
• Share to Gene Expression Regulation