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Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms
Rett syndrome (RTT) is an X-linked dominant neurodevelopmental disorder affecting 1/10,000–15,000 girls. The disease-causing gene was identified as MECP2 on chromosome Xq28, and mutations have been found in ∼80% of patients diagnosed with RTT. Numerous mutations have been identified in de novo and r...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The American Society of Human Genetics
2000
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1287920/ https://ncbi.nlm.nih.gov/pubmed/11055898 |
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