SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes

Although genetic testing is increasingly used in clinical nephrology, a large number of patients with congenital abnormalities of the kidney and urinary tract (CAKUT) remain undiagnosed with current gene panels. Therefore, careful curation of novel genetic findings is key to improving diagnostic yie...

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Hoofdauteurs: Kim, Jung-Hyun, Park, Eun Young, Chitayat, David, Stachura, David L., Schaper, Jörg, Lindstrom, Kristin, Jewett, Tamison, Wieczorek, Dagmar, Draaisma, Jos M., Sinnema, Margje, Hoeberigs, Christianne, Hempel, Maja, Bachman, Kristine K., Seeley, Andrea H., Stone, Joshua K., Kong, Hyun Kyung, Vukadin, Lana, Richard, Alexander, Shinde, Deepali N., McWalter, Kirsty, Si, Yue Cindy, Douglas, Ganka, Lim, Ssang-Taek Steve, Vissers, Lisenka E.L.M., Lemaire, Mathieu, Ahn, Eun-Young Erin
Formaat: Text
Taal:Engels
Gepubliceerd in: 2019
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Article
Online toegang:https://pmc.ncbi.nlm.nih.gov/articles/PMC6534475/
https://pubmed.ncbi.nlm.nih.gov/31005274
http://dx.doi.org/10.1016/j.kint.2019.01.025
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Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC6534475/
https://pubmed.ncbi.nlm.nih.gov/31005274
http://dx.doi.org/10.1016/j.kint.2019.01.025

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