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.
| المؤلف الرئيسي: | |
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| التنسيق: | مقال |
| اللغة: | English |
| منشور في: |
Pediatric Neurology Briefs Publishers
2000-05-01
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| سلاسل: | Pediatric Neurology Briefs |
| الموضوعات: | |
| الوصول للمادة أونلاين: | https://www.pediatricneurologybriefs.com/articles/1936 |
| الملخص: | 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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| تدمد: | 1043-3155 2166-6482 |