Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

Autor: Jesús Argente, Raquel Flores, Armand Gutiérrez‐Arumí, Bhupendra Verma, Gabriel Á Martos‐Moreno, Ivon Cuscó, Ali Oghabian, Julie A Chowen, Mikko J Frilander, Luis A Pérez‐Jurado

Publikováno v: EMBO Molecular Medicine, Vol 12, Iss 9, Pp n/a-n/a (2020)

Externí odkaz: https://doaj.org/article/d2e7a76235fb4c859b656b689277ccd4

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

Autor: Miguel Del Campo, Ivon Cuscó, Gemma Aznar-Laín, Guillermo Antiñolo, Maria Rigau, Marta Codina-Solà, Elisabeth Gabau, Blanca Gener, Maria P. Botella, Luis A. Pérez-Jurado, Aïda Homs, Armand Gutiérrez-Arumí, Javier Santoyo, Benjamín Rodríguez-Santiago

Publikováno v: Molecular Autism
Codina-Solà, M, Rodríguez-Santiago, B, Homs, A, Santoyo, J, Rigau, M, Aznar-Laín, G, del Campo, M, Gener, B, Gabau, E, Botella, M P, Gutiérrez-Arumí, A, Antiñolo, G, Pérez-Jurado, L A & Cuscó, I 2015, ' Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders ', Molecular Autism, vol. 6, no. 1, 21 . https://doi.org/10.1186/s13229-015-0017-0
Recercat. Dipósit de la Recerca de Catalunya
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BACKGROUND: Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited mutations or chromosomal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::210b9379abd668746938067529735b8f