Associated Papers
Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.
Chen P et al.
Frontiers in Genetics, 2022
35154279 (PubMed )
Supplement: Table1.XLSX › 187_patients
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.
Xia XY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
[A new mutation in COL1A1 gene in a family with osteogenesis imperfecta].
Wang Z et al.
Zhonghua Yi Xue Za Zhi, 2006
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