Novel mutation ofIL1RAPL1gene in a nonspecific X-linked mental retardation (MRX) family
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32613/fullpdf
Reference11 articles.
1. IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with neuronal calcium sensor-1 and regulates exocytosis;Bahi;Hum Mol Genet,2003
2. Identification and characterization of two members of a novel class of the interleukin-1 receptor (IL-1R) family. Delineation of a new class of IL-1R-related proteins based on signaling;Born;J Biol Chem,2000
3. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation;Carrie;Nat Genet,1999
4. IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system;Ferrante;Gene,2001
5. Crystal structure of the toll/interleukin-1 receptor domain of human IL-1RAPL;Khan;J Biol Chem,2004
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