Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
FKBP10基因突变会导致布鲁克综合征和隐性成骨不全症，该突变会抑制骨胶原蛋白中端肽赖氨酸的羟基化。
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/dds371
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
