A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference32 articles.
1. Protein tyrosine phosphatases in the human genome;Alonso;Cell,2004
2. Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus);Bellone;Genetics,2008
3. Microdeletion 15q13.3: A locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders;Ben-Shachar;J Med Genet,2009
4. Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system;Bolis;Mol Neurobiol,2007
5. A neuronal nicotinic acetylcholine receptor subunit (alpha 7) is developmentally regulated and forms a homo-oligomeric channel blocked by alpha-BTX;Couturier;Neuron,1990
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