The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene

Schwartz, C. E; Tarpey, P. S; Lubs, H. A; Verloes, A.; May, M. M; Risheg, H.; Friez, M. J; Futreal, P A.; Edkins, S.; Teague, J.; Briault, S.; Skinner, C.; Bauer-Carlin, A.; Simensen, R. J; Joseph, S. M; Jones, J. R; Gecz, J.; Stratton, M. R; Raymond, F L.; Stevenson, R. E

期刊名称Journal of Medical Genetics
作者Schwartz, C. E; Tarpey, P. S; Lubs, H. A; Verloes, A.; May, M. M; Risheg, H.; Friez, M. J; Futreal, P A.; Edkins, S.; Teague, J.; Briault, S.; Skinner, C.; Bauer-Carlin, A.; Simensen, R. J; Joseph, S. M; Jones, J. R; Gecz, J.; Stratton, M. R; Raymond, F L.; Stevenson, R. E
卷第44卷
期第7期
电子ISSN1468-6244
文件大小337.43KB
发表时间2007-01-19
DOI10.1136/jmg.2006.048637
页码472-477

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The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene