Mutations and novel polymorphisms in coding regions and UTRs ofCDK5R1andOMGgenes in patients with non-syndromic mental retardation

Novel JARID1C/SMCX mutations in patients

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation

✍ Andreas Tzschach; Steffen Lenzner; Bettina Moser; Richard Reinhardt; Jamel Chell 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB

X-linked mental retardation (XLMR) is a heterogeneous disorder that affects approximately 2 in 1000 males. JARID1C/SMCX is relatively new among the known XLMR genes, and seven different mutations have been identified previously in this gene [Jensen LR et al., Am. J. Hum. Genet. 76:227-236, 2005]. He