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Article

Mutations in type I collagen genes in Japanese osteogenesis imperfecta patients.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Oct 2007

Kataoka Kyoko, Ogura Eriko, Hasegawa Kosei, Inoue Masaru, Seino Yoshiki, Morishima Tsuneo, Tanaka Hiroyuki

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is an autosomal dominant disorder of connective tissue characterized by bone fragility and low bone mass. COL1A1 and COL1A2 genes are very large and have been rarely analyzed systematically in Japan. The aim of this project was to develop an effective and convenient method of finding mutations in the COL1A1 and COL1A2 gene by using denaturing high-performance liquid...

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PMID: 17875077
DOI: 10.1111/j.1442-200X.2007.02422.x

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

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