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Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.

Yousuke HiguchiKosei HasegawaNatsuko FutagawaMiho YamashitaHiroyuki TanakaHirokazu Tsukahara
Published in: Molecular genetics & genomic medicine (2021)
These results increase our previous detection rate for COL1A1/2 variants to 99% and provide insight into the genotype-phenotype correlations in OI.
Keyphrases
  • copy number
  • label free
  • density functional theory
  • real time pcr
  • gene expression
  • dna methylation
  • genome wide