MECP2 Mutations and Rett Syndrome Phenotypes
Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX.
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| 格式: | 文件 |
| 语言: | English |
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Pediatric Neurology Briefs Publishers
2000-05-01
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| 丛编: | Pediatric Neurology Briefs |
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| 在线阅读: | https://www.pediatricneurologybriefs.com/articles/1936 |
| 总结: | Seventy-one sporadic and 7 familial Rett syndrome (RTT) patients were screened for MECP2 mutations by direct sequencing and the pattern of X chromosome inactivation (XCI) was determined in 39 RTT patients at the Baylor College of Medicine, Houston, TX. |
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| ISSN: | 1043-3155 2166-6482 |