Φορτώνει......
Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
The main mutation responsible for the fragile X syndrome is the expansion of an untranslated CGG repeat in the first exon of the FMR1 gene, associated with the hypermethylation of the proximal CpG island and the CGG repeat region, and repression of transcription of FMR1. Fragile X syndrome mosaicism...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
1996
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1050587/ https://ncbi.nlm.nih.gov/pubmed/8730293 |
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