ID
45528
Descrição
Principal Investigator: Mary-Claire King, University of Washington, Seattle, WA, USA MeSH: Schizophrenia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000738 Schizophrenia is a complex neuropsychiatric disorder characterized by marked genetic heterogeneity. Much of the genetic architecture of the disorder has yet to be explained, but *de novo* mutations appear to play an important role. We used exome sequencing of parent-offspring quads and trios to detect *de novo* mutations in persons with schizophrenia. Patients were more likely to harbor one or more damaging *de novo* mutations, as compared to their healthy siblings. The genes disrupted by damaging mutations in patients operated in processes important to early brain development.
Link
Palavras-chave
Versões (1)
- 27/12/2022 27/12/2022 - Chiara Middel
Titular dos direitos
Mary-Claire King, University of Washington, Seattle, WA, USA
Transferido a
27 de dezembro de 2022
DOI
Para um pedido faça login.
Licença
Creative Commons BY 4.0
Comentários do modelo :
Aqui pode comentar o modelo. Pode comentá-lo especificamente através dos balões de texto nos grupos de itens e itens.
Comentários do grupo de itens para :
Comentários do item para :
Para descarregar formulários, precisa de ter uma sessão iniciada. Por favor faça login ou registe-se gratuitamente.
dbGaP phs000738 Exome Sequencing in Schizophrenia Families
Similar models
Pedigree Information
C0030761 (UMLS CUI [1,2])
C0030761 (UMLS CUI [1,2])
Sem comentários