TY  - GEN
AU  - Malone,Andrew F
AU  - Funk,Steven D
AU  - Alhamad,Tarek
AU  - Miner,Jeffrey H
TI  - 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
SN  - 1432-198X
PY  - 2017///1229
KW  - Adolescent
KW  - Basement Membrane
KW  - pathology
KW  - Child
KW  - Collagen Type IV
KW  - genetics
KW  - Exons
KW  - Female
KW  - Genetic Testing
KW  - Glomerular Filtration Rate
KW  - HEK293 Cells
KW  - Hair Follicle
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Male
KW  - Microscopy, Fluorescence
KW  - Mutation
KW  - Nephritis, Hereditary
KW  - diagnosis
KW  - Pedigree
KW  - Phenotype
KW  - Protein Isoforms
KW  - RNA Splicing
KW  - Sequence Analysis, RNA
KW  - Young Adult
N1  - Publication Type: Journal Article; Validation Study
UR  - https://doi.org/10.1007/s00467-016-3565-4
ER  -