Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

MicroRNAs (miRNAs) are posttranscriptional regulators of gene expression. Heterozygous loss-of-function point mutations of miRNA genes are associated with several human congenital disorders(1–5), but neomorphic (gain-of-new-function) mutations in miRNAs due to nucleotide substitutions have not been...

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Detalles Bibliográficos
Autores principales: Grigelioniene, Giedre, Suzuki, Hiroshi I., Taylan, Fulya, Mirzamohammadi, Fatemeh, Borochowitz, Zvi U., Ayturk, Ugur M., Tzur, Shay, Horemuzova, Eva, Lindstrand, Anna, Weis, Mary Ann, Grigelionis, Gintautas, Hammarsjö, Anna, Marsk, Elin, Nordgren, Ann, Nordenskjöld, Magnus, Eyre, David R., Warman, Matthew L., Nishimura, Gen, Sharp, Phillip A., Kobayashi, Tatsuya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6622181/
https://www.ncbi.nlm.nih.gov/pubmed/30804514
http://dx.doi.org/10.1038/s41591-019-0353-2

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