Heritable Diseases of Collagen

Abstract

FOR several decades it has been apparent that many diseases directly or indirectly involve collagen, the tough fibrous material that is the most abundant protein in the body and the major constituent of skin, tendons, ligaments, demineralized bone, and most blood vessels. The first definitive evidence for the involvement of collagen in diseases has come from studies on genetic disorders. It is now possible to group highly diverse genetic diseases around a core of information about the biochemistry and molecular biology of collagen. The consequences of this new information, however, extend beyond the field of rare genetic diseases. It is . . .