Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China
Author:
Publisher
Wiley
Subject
Nephrology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1440-1797.2010.01438.x/fullpdf
Reference21 articles.
1. Autosomal dominant progressive nephropathy with deafness: linkage to a new locus on chromosome 11q24;Prakash;J. Am. Soc. Nephrol.,2003
2. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts;Wang;Kidney Int.,2005
3. Allograft rejection and glomerular basement membrane antibodies in Alport's syndrome;Charytan;J. Nephrol.,2004
4. A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome;Hertz;Kidney Int.,1995
5. Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome;Turco;Am. J. Kidney Dis.,1997
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2. Prevalence Estimates of Predicted Pathogenic COL4A3–COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome;Journal of the American Society of Nephrology;2021-06-18
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5. A NovelCOL4A3Mutation Causes Autosomal-Recessive Alport Syndrome in a Large Turkish Family;Genetic Testing and Molecular Biomarkers;2013-03
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