• Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[935]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194; PubMed=32656337).
  

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=32656337; DOI=10.1126/sciadv.aaz4012; PMCID=PMC7334000
Gustavo A. Ruiz Buendia, Marion Leleu, Flavia Marzetta, Ludovica Vanzan, Jennifer Y. Tan, Victor Ythier, Emma L. Randall, Ana Claudia Marques, Tuncay Baubec, Rabih Murr, Ioannis Xenarios, Vincent Dion;
Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion.
Sci. Adv. 6:eaaz4012.1-eaaz4012.12(2020)