Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference37 articles.
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2. Alport syndrome;Atkin,1988
3. Identification of mutations in the COL4A5 collagen gene in Alport syndrome;Barker;Science,1990
4. Major rearrangements in the α5(IV) collagen gene in three patients with Alport syndrome;Boye;Genomics,1991
5. Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndrome;Zhou;Genomics,1991
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1. Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene;Clinical and Experimental Nephrology;2022-11-12
2. Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing;Kidney International Reports;2022-01
3. De novo mutations in COL4A5 identified by whole exome sequencing in 2 girls with Alport syndrome in Korea;Korean Journal of Pediatrics;2019-05-15
4. Novel mutations of COL4A3 , COL4A4 , and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique;Molecular Genetics & Genomic Medicine;2019-04-09
5. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations;PLOS ONE;2016-09-14
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