• Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[100-117]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
  

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=18165276; DOI=10.2353/jmoldx.2008.070105; PMCID=PMC2175538
Jean Amos Wilson, Victoria M. Pratt, Amit Phansalkar, Kasinathan Muralidharan, William Edward Highsmith Jr., Jeanne C. Beck, Scott Bridgeman, Ebony M. Courtney, Lidia Epp, Andrea Ferreira-Gonzalez, Nick L. Hjelm ...Show all 28 authors... , Leonard M. Holtegaard, Mohamed A. Jama, John P. Jakupciak, Monique A. Johnson, Paul Labrousse, Elaine Lyon, Thomas W. Prior, C. Sue Richards, Kristy L. Richie, Benjamin B. Roa, Elizabeth M. Rohlfs, Tina Sellers, Stephanie L. Sherman, Karen A. Siegrist, Lawrence M. Silverman, Joanna Wiszniewska, Lisa V. Kalman; Show fewer authors
Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee
Consensus characterization of 16 FMR1 reference materials: a consortium study.
J. Mol. Diagn. 10:2-12(2008)

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)