Malone, Andrew F <br/><br/>
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] 

 -  Pediatric nephrology (Berlin, Germany)  06 2017 
 - 997-1003 p.  digital 
<br/><br/> Publication Type: Journal Article; Validation Study 
<br/><br/><label>ISSN: </label>1432-198X 
<br/><br/><label>Standard No.: </label>10.1007/s00467-016-3565-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Basement Membrane--pathology<br/>Child<br/>Collagen Type IV--genetics<br/>Exons--genetics<br/>Female<br/>Genetic Testing<br/>Glomerular Filtration Rate<br/>HEK293 Cells<br/>Hair Follicle--pathology<br/>High-Throughput Nucleotide Sequencing<br/>Humans<br/>Male<br/>Microscopy, Fluorescence<br/>Mutation<br/>Nephritis, Hereditary--diagnosis<br/>Pedigree<br/>Phenotype<br/>Protein Isoforms--genetics<br/>RNA Splicing--genetics<br/>Sequence Analysis, RNA<br/>Young Adult