The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
最初的卢扬综合征家族在MED12基因中发现了一种新的错义突变(p.N1007S)。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.2006.048637
Schwartz, Charles E; Tarpey, Patrick S; Lubs, Herbert A; Verloes, Alain; May, Melanie M; Risheg, Hiba; Friez, Michael J; Futreal, P Andrew; Edkins, Sarah; Teague, Jon; Briault, Sylvain; Skinner, Cindy; Bauer-Carlin, Astrid; Simensen, Richard J; Joseph, Sumy M; Jones, Julie R; Gecz, Josef; Stratton, Michael R; Raymond, F Lucy; Stevenson, Roger E