Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
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Title
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome
Authors
Keywords
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Journal
JOURNAL OF HUMAN GENETICS
Volume -, Issue -, Pages -
Publisher
Springer Nature
Online
2019-04-23
DOI
10.1038/s10038-019-0606-4
References
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Related references
Note: Only part of the references are listed.- Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93
- (2018) Martin Bezdíčka et al. PEDIATRIC NEPHROLOGY
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- Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome
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- Nucleoporin genes in human diseases
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- Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome
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- The nuclear pore complex: understanding its function through structural insight
- (2016) Martin Beck et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Architecture of the symmetric core of the nuclear pore
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- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- In situ structural analysis of the human nuclear pore complex
- (2015) Alexander von Appen et al. NATURE
- Heterogeneous Genetic Alterations in Sporadic Nephrotic Syndrome Associate with Resistance to Immunosuppression
- (2014) S. Giglio et al. JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
- The spliceosome: a flexible, reversible macromolecular machine
- (2012) Aaron A. Hoskins et al. TRENDS IN BIOCHEMICAL SCIENCES
- The C-terminal domain of Nup93 is essential for assembly of the structural backbone of nuclear pore complexes
- (2011) Ruchika Sachdev et al. MOLECULAR BIOLOGY OF THE CELL
- Immunosuppression and Renal Outcome in Congenital and Pediatric Steroid-Resistant Nephrotic Syndrome
- (2010) A. K. Buscher et al. Clinical Journal of the American Society of Nephrology
- The nucleoporin Nup188 controls passage of membrane proteins across the nuclear pore complex
- (2010) Gandhi Theerthagiri et al. JOURNAL OF CELL BIOLOGY
- The Spliceosome: Design Principles of a Dynamic RNP Machine
- (2009) Markus C. Wahl et al. CELL
- In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation
- (2009) Kandai Nozu et al. HUMAN GENETICS
- Long-term outcome of idiopathic steroid-resistant nephrotic syndrome: a multicenter study
- (2009) Djalila Mekahli et al. PEDIATRIC NEPHROLOGY
- A Deep Intronic Mutation in the SLC12A3 Gene Leads to Gitelman Syndrome
- (2009) Kandai Nozu et al. PEDIATRIC RESEARCH
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