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

PubMed=1672039; DOI=10.1038/349624a0
Anne Vincent, Dominique Heitz, Christine Petit, Christine Kretz, Isabelle Oberle, Jean-Louis Mandel;
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.
Nature 349:624-626(1991)

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

PubMed=25776194; DOI=10.1016/j.jmoldx.2014.12.005
Grace X.-Y. Lim, Yu-Ling Loo, Farmaditya E.P. Mundhofir, Ferdy K. Cayami, Sultana M.H. Faradz, Indhu-Shree Rajan-Babu, Samuel S. Chong, Yvonne Y. Koh, Ming Guan;
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; PMCID=PMC7781359
Alexander A. Dolskiy, Andrey A. Yarushkin, Irina V. Grishchenko, Natalya A. Lemskaya, Alexey Valeryevich Pindyurin, Lidiya V. Boldyreva, Vladimir O. Pustylnyak, Dmitry V. Yudkin;
miRNA expression and interaction with the 3'UTR of FMR1 in FRAXopathy pathogenesis.
Noncoding RNA Res. 6:1-7(2021)