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...

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Autori principali: Loomis, Erick W., Eid, John S., Peluso, Paul, Yin, Jun, Hickey, Luke, Rank, David, McCalmon, Sarah, Hagerman, Randi J., Tassone, Flora, Hagerman, Paul J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Cold Spring Harbor Laboratory Press 2013
Soggetti:
Method
Accesso 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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