• Mutation; HGNC; 3775; FMR1; Repeat_expansion; CGG[23]; ClinVar=VCV000009972; Zygosity=Hemizygous (PubMed=25776194).
  

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=20889555; DOI=10.2353/jmoldx.2010.100090
Pratt V.M., Zehnbauer B.A., Wilson J.A., Epstein-Baak R., Babic N., Bettinotti M.P., Buller-Burckle A.M., Butz K.G., Campbell M., Civalier C., El-Badry A., Farkas D.H., Lyon E., Mandal S., McKinney J., Muralidharan K., Noll L., Sander T., Shabbeer J., Smith C.-Y.H., Telatar M., Toji L.H., Vairavan A., Vance C., Weck K.E., Wu A.H.B., Yeo K.-T.J., Zeller M., Kalman L.V.
Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project.
J. Mol. Diagn. 12:835-846(2010)

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=29959025; DOI=10.1016/j.jmoldx.2018.05.009
Bettinotti M.P., Ferriola D., Duke J.L., Mosbruger T.L., Tairis N., Jennings L., Kalman L.V., Monos D.S.
Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project.
J. Mol. Diagn. 20:703-715(2018)

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)