| Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families | |
| Pang, Qianqian; Qi, Xuan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Dong, Jin; Xia, Weibo | |
| 2015 | |
| 卷号 | 30期号:4页码:989-997 |
| 关键词 | Carbonic anhydrase II deficiency syndrome Mutation Osteopetrosis Cerebral calcifications Renal tubular acidosis (RTA) |
| ISSN号 | 0885-7490 |
| DOI | 10.1007/s11011-015-9660-6 |
| URL标识 | 查看原文 |
| 收录类别 | SCIE ; PUBMED |
| 内容类型 | 期刊论文 |
| URI标识 | http://www.corc.org.cn/handle/1471x/6662794 |
| 专题 | 中国医学科学院 北京协和医学院 |
| 推荐引用方式 GB/T 7714 | Pang, Qianqian,Qi, Xuan,Jiang, Yan,et al. Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families[J],2015,30(4):989-997. |
| APA | Pang, Qianqian.,Qi, Xuan.,Jiang, Yan.,Wang, Ou.,Li, Mei.,...&Xia, Weibo.(2015).Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families.,30(4),989-997. |
| MLA | Pang, Qianqian,et al."Two novel CAII mutations causing carbonic anhydrase II deficiency syndrome in two unrelated Chinese families".30.4(2015):989-997. |
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