A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy
IX型胶原蛋白α3链的突变会导致常染色体显性遗传的多发性骨骺发育不良伴轻度肌病。
期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.97.3.1212
Bönnemann, C G; Cox, G F; Shapiro, F; Wu, J J; Feener, C A; Thompson, T G; Anthony, D C; Eyre, D R; Darras, B T; Kunkel, L M
