Molecular testing for adult type Alport syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Nephrology
Link
http://link.springer.com/article/10.1186/1471-2369-10-38/fulltext.html
Reference10 articles.
1. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K: Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science. 1990, 248 (4960): 1224-1227. 10.1126/science.2349482.
2. Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M: Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. Nephrol Dial Transplant. 2002, 17 (7): 1218-1227. 10.1093/ndt/17.7.1218.
3. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, et al: X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol. 2003, 14 (10): 2603-2610. 10.1097/01.ASN.0000090034.71205.74.
4. Jais JP, Knebelmann B, Giatras I, De Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, et al: X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. J Am Soc Nephrol. 2000, 11 (4): 649-657.
5. Barker DF, Denison JC, Atkin CL, Gregory MC: Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q. Hum Genet. 1997, 99 (5): 681-684. 10.1007/s004390050429.
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1. Pathogenicity of missense variants affecting the collagen IV α5 carboxy non-collagenous domain in X-linked Alport syndrome;Scientific Reports;2022-07-04
2. Last Nucleotide Substitutions of COL4A5 Exons Cause Aberrant Splicing;Kidney International Reports;2022-01
3. X-Linked Alport Syndrome in Women: Genotype and Clinical Course in 24 Cases;Frontiers in Medicine;2020-11-23
4. Trimerization and Genotype–Phenotype Correlation of COL4A5 Mutants in Alport Syndrome;Kidney International Reports;2020-05
5. Whole exome sequencing reveals novel COL4A3 and COL4A4mutations and resolves diagnosis in Chinese families with kidney disease;BMC Nephrology;2014-11-07
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