Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

SUMMARY: To elucidate mutation spectrum and genotype-phenotype correlations in Japanese patients with OI, we conducted comprehensive genetic analyses using NGS, as this had not been analyzed comprehensively in this patient population. Most mutations were located on COL1A1 and COL1A2. Glycine substit...

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Detalles Bibliográficos
Autores principales: Ohata, Y., Takeyari, S., Nakano, Y., Kitaoka, T., Nakayama, H., Bizaoui, V., Yamamoto, K., Miyata, K., Fujiwara, M., Kubota, T., Michigami, T., Yamamoto, T., Namba, N., Ebina, K., Yoshikawa, H., Ozono, K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer London 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7083816/
https://www.ncbi.nlm.nih.gov/pubmed/31363794
http://dx.doi.org/10.1007/s00198-019-05076-6

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