Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

Although biallelic mutations in non-collagen genes account for <10% of individuals with osteogenesis imperfecta, the characterization of these genes has identified new pathways and potential interventions that could benefit even those with mutations in type I collagen genes. We identified mutatio...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Schwarze, Ulrike, Cundy, Tim, Pyott, Shawna M., Christiansen, Helena E., Hegde, Madhuri R., Bank, Ruud A., Pals, Gerard, Ankala, Arunkanth, Conneely, Karen, Seaver, Laurie, Yandow, Suzanne M., Raney, Ellen, Babovic-Vuksanovic, Dusica, Stoler, Joan, Ben-Neriah, Ziva, Segel, Reeval, Lieberman, Sari, Siderius, Liesbeth, Al-Aqeel, Aida, Hannibal, Mark, Hudgins, Louanne, McPherson, Elizabeth, Clemens, Michele, Sussman, Michael D., Steiner, Robert D., Mahan, John, Smith, Rosemarie, Anyane-Yeboa, Kwame, Wynn, Julia, Chong, Karen, Uster, Tami, Aftimos, Salim, Sutton, V. Reid, Davis, Elaine C., Kim, Lammy S., Weis, Mary Ann, Eyre, David, Byers, Peter H.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2013
Assuntos:
Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3606010/
https://ncbi.nlm.nih.gov/pubmed/22949511
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds371
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados