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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Main Authors: 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
Format: Text
Language:English
Published: 2019
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC6622181/
https://pubmed.ncbi.nlm.nih.gov/30804514
http://dx.doi.org/10.1038/s41591-019-0353-2
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