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

ConclusionThese results increase our previous detection rate for COL1A1/2 variants to 99% and provide insight into the genotype ‐phenotype correlations in OI.

Source: Molecular Genetics & Genomic Medicine - May 3, 2021 Category: Genetics & Stem Cells Authors: Yousuke Higuchi, Kosei Hasegawa, Natsuko Futagawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara Tags: ORIGINAL ARTICLE Source Type: research