Associated Papers
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
35044492 (PubMed )
Supplement: 198_2021_6263_MOESM2_ESM.xlsx › COL1A1_HGMD_data
Restoration of Osteogenesis by CRISPR/Cas9 Genome Editing of the Mutated COL1A1 Gene in Osteogenesis Imperfecta.
Jung H et al.
Journal of Clinical Medicine, 2021
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.
Shi J et al.
Frontiers in Pharmacology, 2019
31680973 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta.
Ho Duy B et al.
Human Genomics, 2016
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
Lin HY et al.
Orphanet Journal of Rare Diseases, 2015
Thirty-three novel COL1A1 and COL1A2 mutations in patients with osteogenesis imperfecta types I-IV.
Ward LM et al.
Human Mutation, 2001
Osteogenesis imperfecta in Brazilian patients.
Trancozo M et al.
Genetics and Molecular Biology, 0
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