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

The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome...

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Autores principales: Argente, Jesús, Flores, Raquel, Gutiérrez-Arumí, Armand, Verma, Bhupendra, Martos-Moreno, Gabriel Á, Cuscó, Ivon, Oghabian, Ali, Chowen, Julie A, Frilander, Mikko J, Pérez-Jurado, Luis A
Formato: Artigo
Lenguaje:Inglês
Publicado: Blackwell Publishing Ltd 2014
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Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3958305/
https://ncbi.nlm.nih.gov/pubmed/24480542
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/emmm.201303573
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