A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
CD38 encodes a ligand in the oxytocin signaling pathway. Some single nucleotide polymorphisms in this gene have been associated with low serum oxytocin levels in autism spectrum disorder (ASD) patients. Oxytocin disruption has been hypothesized to account for features of ASD, including impaired comm...
Hlavní autoři: | Ceroni, F, Sagar, A, Simpson, N, Gawthrope, A, Newbury, D, Pinto, D, Francis, S, Tessman, D, Cook, E, Monaco, A, Maestrini, E, Pagnamenta, A, Jacob, S |
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Médium: | Journal article |
Jazyk: | English |
Vydáno: |
John Wiley and Sons Inc.
2014
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