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Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot… Click to show full abstract
Alport syndrome (AS) is an inherited progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes. The large sizes of these genes and the absence of mutation hot spots have complicated mutational analysis by routine PCR‐based approaches. In recent years, the development of next‐generation sequencing (NGS) has made possible the time‐ and cost‐effective and accurate analysis of the three genes in a single step.
Keywords:
col4a5 genes;
alport syndrome;
mutations col4a3;
col4a3 col4a4;
col4a4 col4a5;
next generation
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019
Link to full text (if available)
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recommendations!