• Mutation; HGNC; HGNC:6990; MECP2; Simple; p.Leu386Argfs*8 (c.1157_1188del32) (p.Leu398Argfs*8, c.1193_1224del32) (1155del32); ClinVar=VCV000143366; Zygosity=Unspecified (PubMed=12418965).
  

PubMed=11738860; DOI=10.1016/S0387-7604(01)00339-4
Stephen Sung Jae Lee, Mi-Mi Wan, Uta Francke;
Spectrum of MECP2 mutations in Rett syndrome.
Brain Dev. 23 Suppl. 1:S138-S143(2001)

PubMed=12418965; DOI=10.1186/1471-2350-3-12; PMCID=PMC137585
Jeff Traynor, Priyanka Agarwal, Laura Lazzeroni, Uta Francke;
Gene expression patterns vary in clonal cell cultures from Rett syndrome females with eight different MECP2 mutations.
BMC Med. Genet. 3:12.1-12.15(2002)

PubMed=21074045; DOI=10.1016/j.cell.2010.10.016; PMCID=PMC3003590
Maria Carolina N. Marchetto, Cassiano Carromeu, Allan Acab, Diana X. Yu, Gene W. Yeo, Yang-Ling Mu, Gong Chen, Fred Harrison Gage, Alysson Renato Muotri;
A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells.
Cell 143:527-539(2010)

PubMed=21840716; DOI=10.1016/j.bmcl.2011.07.053; PMCID=PMC3159815
Dong-Bo Yu, Fuminori Sakurai, David Reid Corey;
Clonal Rett syndrome cell lines to test compounds for activation of wild-type MeCP2 expression.
Bioorg. Med. Chem. Lett. 21:5202-5205(2011)