Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles

Hayward, B; Loutaev, I; Ding, XH; Nolin, SL; Thurm, A; Usdin, K; Smith, CB

Smith, CB (reprint author), NIMH, Sect Neuroadaptat & Prot Metab, NIH, Bethesda, MD 20892 USA.; Usdin, K (reprint author), NIDDK, Sect Gene Struct & Dis, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019; 179 (10): 2132

Abstract

Most cases of fragile X syndrome (FXS) result from aberrant methylation of the FMR1 gene. Methylation occurs when the number of tandemly arranged cyto......

Full Text Link


Links

期刊讨论 | 中国SCI论文 | 期刊主页 | 投稿经验 | 杂志官网 | 投稿链接 | 作者需知 | PMC链接 | Pubmed全文检索