Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. [electronic resource]
Producer: 20201014Description: 883-889 p. digitalISSN:- 1523-1755
- Adolescent
- Age of Onset
- Cell Line
- Child
- Child, Preschool
- Consanguinity
- DNA Mutational Analysis
- Disease Progression
- Drug Resistance -- genetics
- Female
- Follow-Up Studies
- Gene Frequency
- Glomerular Basement Membrane -- pathology
- Glucocorticoids -- pharmacology
- Homozygote
- Humans
- Male
- Membrane Proteins -- genetics
- Microscopy, Electron, Transmission
- Mutation
- Nephrotic Syndrome -- drug therapy
- Pedigree
- Podocytes
- Renal Insufficiency, Chronic -- genetics
- Exome Sequencing
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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