Results 131 to 140 of about 4,380 (145)

Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified Variants

Kidney International Reports, 2023
Yanqin Zhang
exaly  

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3–COL4A5) and Their Association With Other Kidney Conditions: A Review

American Journal of Kidney Diseases, 2021
Judy Savige
exaly  

Mild X-linked Alport syndrome due to the COL4A5 G624D variant originating in the Middle Ages is predominant in Central/East Europe and causes kidney failure in midlife

Kidney International, 2021
Constantinos Deltas, Elżbieta Kuźma-Mroczkowska, Hanna Nosek   +2 more
exaly  

Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing

Kidney International Reports, 2022
Eri Okada, Tomohiko Yamamura, Masafumi Matsuo   +2 more
exaly  

Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome

Kidney International Reports, 2020
Tomohiko Yamamura, Hirofumi Kai, Kohei Omachi   +2 more
exaly  

Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome†‡

Human Mutation, 2005
Oliver Gross, Mato Nagel
exaly  

Genetic Testing for X-Linked Alport Syndrome by Direct Sequencing of COL4A5 cDNA From Hair Root RNA Samples

American Journal of Kidney Diseases, 2007
Roser Torra, Elisabet Ars, Jose Ballarin
exaly  

Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients

Human Mutation, 1995
Ann Harris, Jing Zhou, Frances Flinter
exaly  

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Frontiers in Pediatrics, 2020
Xuejuan Li
exaly  

Efficient detection of alport syndrome COL4a5 mutations with multiplex genomic PCR-SSCP

American Journal of Medical Genetics, Part A, 2001
Martin C Gregory, Curtis L Atkin, David F Barker   +2 more
exaly