换一批Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
第一作者：
Ulrike,Schwarze
第一单位：
Department of Pathology, University of Washington, Seattle, WA 98195-7470, USA.
作者：
医学主题词
关节挛缩(Arthrogryposis);胶原Ⅰ型(Collagen Type I);女(雌)性(Female);基因, 隐性(Genes, Recessive);人类(Humans);羟基化(Hydroxylation);赖氨酸(Lysine);男(雄)性(Male);突变(Mutation);成骨不全(Osteogenesis Imperfecta);蛋白质加工, 转译后(Protein Processing, Post-Translational);他克莫司结合蛋白质类(Tacrolimus Binding Proteins)
DOI
10.1093/hmg/dds371
PMID
22949511
发布时间
2024-11-21
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