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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 alterations compatible with heterozygosity for a mutation that affected expression or structure of alpha chains of type...

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Identifiers

PMID: 2339695
PMCID: PMC1683590

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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