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Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients.

Human mutation - 1 Apr 2004

Ries-Levavi Liat, Ish-Shalom Tsofia, Frydman Moshe, Lev Dorit, Cohen Shirley, Barkai Gad, Goldman Boleslaw, Byers Peter, Friedman Eitan

Abstract excerpt

Osteogenesis imperfecta (OI) is clinically characterized by abnormal bone fragility, with most patients harboring heterozygote germline mutations in the COL1A1 or COL1A2 genes that encode the chains of type I procollagen, the major protein in bone. More than 250 mutations in both genes in OI pati...

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Identifiers

PMID: 15024745
DOI: 10.1002/humu.9230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15024745-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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