| Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex | |
| Hoogeveen-Westerveld, Marianne; Ekong, Rosemary; Povey, Sue; Karbassi, Izabela; Batish, Sat Dev; den Dunnen, Johan T.; van Eeghen, Agnies; Thiele, Elizabeth; Mayer, Karin; Dies, Kira | |
| 刊名 | Human Mutation
 |
| 2012 | |
| 卷号 | 33期号:3页码:476-479 |
| 关键词 | TSC1 TSC2 tuberous sclerosis complex hamartin tuberin |
| ISSN号 | 1098-1004 |
| DOI | 10.1002/humu.22007 |
| URL标识 | 查看原文 |
| WOS记录号 | WOS:000300706000006 |
| 内容类型 | 期刊论文 |
| URI标识 | http://www.corc.org.cn/handle/1471x/3320702 |
| 专题 | 中南大学 |
| 作者单位 | 1.[Halley, Dicky 2.Nellist, Mark 3.van den Ouweland, Ans 4.Hoogeveen-Westerveld, Marianne] Erasmus MC, Dept Clin Genet, NL-3015 GE Rotterdam, Netherlands. |
| 推荐引用方式 GB/T 7714 | Hoogeveen-Westerveld, Marianne,Ekong, Rosemary,Povey, Sue,et al. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex[J]. Human Mutation,2012,33(3):476-479. |
| APA | Hoogeveen-Westerveld, Marianne.,Ekong, Rosemary.,Povey, Sue.,Karbassi, Izabela.,Batish, Sat Dev.,...&Nellist, Mark*.(2012).Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.Human Mutation,33(3),476-479. |
| MLA | Hoogeveen-Westerveld, Marianne,et al."Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex".Human Mutation 33.3(2012):476-479. |
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