A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta typeⅠin a Chinese family / 医学研究生学报

ABSTRACT

A) in COL1A1 gene resulting in OI in a Chinese family. The detailed molecular and clinical features will be useful for extending the evidence for genetic and phenotypic heterogeneity in OI and exploring the phenotype-genotype correlations in OI.