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.
| Κύριος συγγραφέας: | |
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| Μορφή: | Άρθρο |
| Γλώσσα: | English |
| Έκδοση: |
Pediatric Neurology Briefs Publishers
2000-05-01
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| Σειρά: | Pediatric Neurology Briefs |
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| Διαθέσιμο Online: | https://www.pediatricneurologybriefs.com/articles/1936 |