• Mutation; HGNC; HGNC:3775; FMR1; Repeat_expansion; CGG[46]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
  

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)