• Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[645]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
  

PubMed=1672039; DOI=10.1038/349624a0
Vincent A., Heitz D., Petit C., Kretz C., Oberle I., Mandel J.-L.
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.
Nature 349:624-626(1991)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=25776194; DOI=10.1016/j.jmoldx.2014.12.005
Lim G.X.-Y., Loo Y.-L., Mundhofir F.E.P., Cayami F.K., Faradz S.M.H., Rajan-Babu I.-S., Chong S.S., Koh Y.Y., Guan M.
Validation of a commercially available screening tool for the rapid identification of CGG trinucleotide repeat expansions in FMR1.
J. Mol. Diagn. 17:302-314(2015)

PubMed=33426406; DOI=10.1016/j.ncrna.2020.11.006
Dolskiy A.A., Yarushkin A.A., Grishchenko I.V., Lemskaya N.A., Pindyurin A.V., Boldyreva L.V., Pustylnyak V.O., Yudkin D.V.
miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis.
Noncoding RNA Res. 6:1-7(2021)