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...
المؤلفون الرئيسيون: | 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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التنسيق: | Journal article |
اللغة: | English |
منشور في: |
John Wiley and Sons Inc.
2014
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مواد مشابهة
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A Deletion Involving CD38 and BST1 Results in a Fusion Transcript in a Patient With Autism and Asthma
حسب: Ceroni, F, وآخرون
منشور في: (2014) -
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment.
حسب: Newbury, D, وآخرون
منشور في: (2009) -
Molecular genetic investigations of autism.
حسب: Maestrini, E, وآخرون
منشور في: (1998) -
Identifying autism susceptibility genes.
حسب: Maestrini, E, وآخرون
منشور في: (2000) -
Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium.
حسب: Maestrini, E, وآخرون
منشور في: (1999)