Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta
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...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Palacký University Olomouc, Faculty of Medicine and Dentistry
2016-09-01
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| Series: | Biomedical Papers |
| Subjects: | |
| Online Access: | https://biomed.papers.upol.cz/artkey/bio-201603-0017_Eight_mutations_including_5_novel_ones_in_the_COL1A1_gene_in_Czech_patients_with_osteogenesis_imperfecta.php |