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Article

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia - 1 Sept 2016

Hruskova Lucie, Fijalkowski Igor, Van Hul Wim, Marik Ivo, Mortier Geert, Martasek Pavel, Mazura Ivan

Abstract excerpt

BACKGROUND AND AIM: Osteogenesis imperfecta (OI), also called brittle bone disease, is a clinically and genetically heterogeneous disorder characterized by decreased bone density. Autosomal dominant forms result from mutations in either the COL1A1 (collagen type I alpha-1 chain) or COL1A2 (collagen type I alpha-2 chain) genes encoding the type I collagen. The aim of this study was to identify mutations and...

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Source

Identifiers

PMID: 27132807
DOI: 10.5507/bp.2016.022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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