Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome. [electronic resource]
Producer: 20171229Description: 997-1003 p. digitalISSN:- 1432-198X
- Adolescent
- Basement Membrane -- pathology
- Child
- Collagen Type IV -- genetics
- Exons -- genetics
- Female
- Genetic Testing
- Glomerular Filtration Rate
- HEK293 Cells
- Hair Follicle -- pathology
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Microscopy, Fluorescence
- Mutation
- Nephritis, Hereditary -- diagnosis
- Pedigree
- Phenotype
- Protein Isoforms -- genetics
- RNA Splicing -- genetics
- Sequence Analysis, RNA
- Young Adult
No physical items for this record
Publication Type: Journal Article; Validation Study
There are no comments on this title.
Log in to your account to post a comment.