Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses
Sanggaard, Kirsten Marie; Rendtorff, Nanna Dahl; Kjaer, Klaus Wilbrandt; Eiberg, Hans; Johnsen, Torsten; Gimsing, Steen; Dyrmose, Jørgen; Nielsen, Kristian Otto; Lage, Kasper; Tranebjærg, Lisbeth
- 作者Sanggaard, Kirsten Marie; Rendtorff, Nanna Dahl; Kjaer, Klaus Wilbrandt; Eiberg, Hans; Johnsen, Torsten; Gimsing, Steen; Dyrmose, Jørgen; Nielsen, Kristian Otto; Lage, Kasper; Tranebjærg, Lisbeth
- 卷第15卷
- 期第11期
- 印刷ISSN1018-4813
- 文件大小230.11KB
- 发表时间2007
- DOI10.1038/sj.ejhg.5201900
- 页码1121-1131