https://www.selleckchem.com/pr....oducts/bardoxolone.h
We identified a novel COL1A1 mutation (c.1822 GA; p.Gly608Ser) in the fetus but not in her parents by an skeletal dysplasias panel. Bioinformatic analysis showed that the affected residue (p.Gly608) is highly conserved from zebrafish to humans. In contrast to larvae expressing wild-type (WT) col1a1a and enhanced green fluorescent protein (EGFP), col1a1a mutation-expressing larvae showed significant spinal curvature and embryonic lethality, mimicking the phenotype of human OI. Our study revealed the pathogenicity of a de novo mut
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