B1U4 DNA repeat expansion disorders
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7 terms
Terms | Definitions |
|---|---|
| Huntington's disease | expansion of a repeat CAG |
| Huntington's disease | Polyglutaminylated protein toxic to specific neurons |
| Fragile X syndrome | repeated CGG |
| Fragile X syndrome | translation of protein prevented |
| Fragile X syndrome | protein whose translation is blocked is found in high concentrations in neurons |
| 200 | # of repeats to get full Fragile X syndrome |
| Fragile X syndrome | most common form of inherited mental retardation |
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