Fragile-X syndrome: Unique genetics of the heritable unstable element

The fragile site at Xq27.3 is an unstable microsatellite repeat, p(CCG)(n). In fragile-X syndrome pedigrees, this sequence exhibits variable amplification, the length of which correlates with fragile-site expression. There is a direct relationship between increased p(CCG)(n) copy number and propensi...

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Autori principali: Yu, S., Mulley, J., Loesch, D., Turner, G., Donnelly, A., Gedeon, A., Hillen, D., Kremer, E., Lynch, M., Pritchard, M., Sutherland, G. R., Richards, R. I.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1992
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682586/
https://ncbi.nlm.nih.gov/pubmed/1570846
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