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...

Topics

• Base Sequence
• Collagen
• Gene Expression Regulation
• Humans
• Mutation
• Osteogenesis Imperfecta
• Phenotype