Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

Article

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

American journal of human genetics - 1 May 1990

Wenstrup R J, Willing M C, Starman B J, Byers P H

Abstract excerpt

We reviewed clinical and biochemical findings from 132 probands with nonlethal forms of osteogenesis imperfecta (OI) whose fibroblasts were sent to the University of Washington for diagnostic studies in the years 1981-87. In cells from 86% of probands with nonlethal OI we identified biochemical a...

Topics

Cells, Cultured
Collagen
Fibroblasts
Genetic Variation
Humans
Macromolecular Substances
Molecular Weight
Osteogenesis Imperfecta
Phenotype
Procollagen
Proline
Protein Conformation
Skin

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