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.
| প্রধান লেখক: | |
|---|---|
| বিন্যাস: | প্রবন্ধ |
| ভাষা: | English |
| প্রকাশিত: |
Pediatric Neurology Briefs Publishers
2000-05-01
|
| মালা: | Pediatric Neurology Briefs |
| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://www.pediatricneurologybriefs.com/articles/1936 |
| সংক্ষিপ্ত: | 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. |
|---|---|
| আইএসএসএন: | 1043-3155 2166-6482 |