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Sequencing the unsequenceable: Expanded CGG-repeat alleles of the fragile X gene
The human fragile X mental retardation 1 (FMR1) gene contains a (CGG)(n) trinucleotide repeat in its 5′ untranslated region (5′UTR). Expansions of this repeat result in a number of clinical disorders with distinct molecular pathologies, including fragile X syndrome (FXS; full mutation range, greater...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Cold Spring Harbor Laboratory Press
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3530672/ https://ncbi.nlm.nih.gov/pubmed/23064752 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.141705.112 |
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