Elevated FMR1 mRNA in premutation carriers is due to increased transcription

Carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene have levels of FMR1 mRNA that are elevated by as much as 10-fold in peripheral blood leukocytes and CNS tissue. The excess expanded-repeat mRNA, per se, is now believed to result in forms of clinic...

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Veröffentlicht in:	RNA (Cambridge) 2007-04, Vol.13 (4), p.555-562
Hauptverfasser:	Tassone, Flora, Beilina, Alexandra, Carosi, Chiara, Albertosi, Serena, Bagni, Claudia, Li, Lexin, Glover, Kira, Bentley, David, Hagerman, Paul J
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Fragile X Mental Retardation Protein - genetics Fragile X Mental Retardation Protein - metabolism Fragile X Syndrome - genetics Fragile X Syndrome - metabolism Heterozygote Leukocytes, Mononuclear - metabolism Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Nucleic Acid Amplification Techniques Polymerase Chain Reaction RNA, Messenger - metabolism Transcription, Genetic Trinucleotide Repeat Expansion - genetics
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