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Article

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene.

Genome research - 1 Jan 2013

Loomis Erick W, Eid John S, Peluso Paul, Yin Jun, Hickey Luke, Rank David, McCalmon Sarah, Hagerman Randi J, Tassone Flora, Hagerman Paul J

Abstract excerpt

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 than 200 CGG repeats) and fragile X-associated tremor/ataxia syndrome (FXTAS; premutation range, 55-200 repeats)....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23064752
DOI: 10.1101/gr.141705.112
PMCID: PMC3530672

Genes

FMR1

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