Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression

Biallelic mutations of the DNA annealing helicase SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1) cause Schimke immuno-osseous dysplasia (SIOD, MIM 242900), an incompletely penetrant autosomal recessive disorder. Using human, Drosophila and m...

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Main Authors: Baradaran-Heravi, Alireza, Cho, Kyoung Sang, Tolhuis, Bas, Sanyal, Mrinmoy, Morozova, Olena, Morimoto, Marie, Elizondo, Leah I., Bridgewater, Darren, Lubieniecka, Joanna, Beirnes, Kimberly, Myung, Clara, Leung, Danny, Fam, Hok Khim, Choi, Kunho, Huang, Yan, Dionis, Kira Y., Zonana, Jonathan, Keller, Kory, Stenzel, Peter, Mayfield, Christy, Lücke, Thomas, Bokenkamp, Arend, Marra, Marco A., van Lohuizen, Maarten, Lewis, David B., Shaw, Chad, Boerkoel, Cornelius F.
Format: Artigo
Language:Inglês
Published: Oxford University Press 2012
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3349428/
https://ncbi.nlm.nih.gov/pubmed/22378147
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds083
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