Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy. [electronic resource]
Producer: 20191022Description: 71-77 p. digitalISSN:- 1532-8392
- Adaptor Proteins, Signal Transducing -- genetics
- Adolescent
- Adult
- Biopsy
- Child
- Child, Preschool
- Cytoskeletal Proteins
- Female
- Gene Deletion
- Genetic Markers
- Genetic Predisposition to Disease
- Homozygote
- Humans
- In Situ Hybridization, Fluorescence
- Kidney -- pathology
- Kidney Diseases, Cystic -- complications
- Male
- Membrane Proteins -- genetics
- Phenotype
- Polymerase Chain Reaction
- Predictive Value of Tests
- Renal Insufficiency, Chronic -- genetics
- Risk Factors
- Young Adult
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Publication Type: Journal Article
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