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Article

Complete COL1A1 allele deletions in osteogenesis imperfecta.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2010

van Dijk Fleur S, Huizer Margriet, Kariminejad Ariana, Marcelis Carlo L, Plomp Astrid S, Terhal Paulien A, Meijers-Heijboer Hanne, Weiss Marjan M, van Rijn Rick R, Cobben Jan M, Pals Gerard

Abstract excerpt

PURPOSE: To identify a molecular genetic cause in patients with a clinical diagnosis of osteogenesis imperfecta (OI) type I/IV. METHODS: The authors performed multiplex ligation-dependent probe amplification analysis of the COL1A1 gene in a group of 106 index patients. RESULTS: In four families with mild osteogenesis imperfecta and no other phenotypic abnormalities, a deletion of the complete COL1A1 gene on one...

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Identifiers

PMID: 21113976
DOI: 10.1097/GIM.0b013e3181f01617

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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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