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Mutations in Collagen Genes. Consequences for Rare and Common Diseases

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source: Journal of Clinical Investigation

year: 1985

authors: Prockop DJ


As readers of this journal are well aware, the technologies of gene cloning and gene analysis have recently lead to dramatic discoveries about the molecular basis of heritable disorders such as sickle cell disease, thalassemias, phenylketonuria, and the Lesch-Nyhan syndrome. In many instances the discoveries have provided the basis for new DNA tests for the early, prenatal diagnosis of serious forms of the diseases. Recent work on human genes for collagen is proceeding along a similar path and has now defined the molecular basis for a number of heritable disorders of connective tissue (for reviews, see references 1-5). It is very likely that DNA tests for the prenatal diagnosis of a few of these conditions will soon be available. The recent work on mutations in collagen genes, however, has provided several surprises as to the kinds of mutations and some of the consequences of these mutations.

organization: University of Medicine and Dentistry of New Jersey-Rutgers Medical School

DOI: 10.1172/JCI111773

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