Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
Steel综合征创始等位基因的功能生物学及COL27A1致病等位基因在全球范围内的家族基因组学起源证据
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-020-0632-x
Gonzaga-Jauregui, Claudia; Yesil, Gozde; Nistala, Harikiran; Gezdirici, Alper; Bayram, Yavuz; Nannuru, Kalyan C; Pehlivan, Davut; Yuan, Bo; Jimenez, Johanna; Sahin, Yavuz; Paine, Ingrid S; Akdemir, Zeynep Coban; Rajamani, Saathyaki; Staples, Jeffrey; Dronzek, John; Howell, Kristen; Fatih, Jawid M; Smaldone, Silvia; Schlesinger, Alan E; Ramírez, Norman; Cornier, Alberto S; Kelly, Melissa A; Haber, Robert; Chim, Shek Man; Nieman, Kristy; Wu, Nan; Walls, Johnathon; Poueymirou, William; Siao, Chia-Jen; Sutton, V Reid; Williams, Marc S; Posey, Jennifer E; Gibbs, Richard A; Carlo, Simon; Tegay, David H; Economides, Aris N; Lupski, James R
