Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome

BACKGROUND: Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and comprehensive scr...

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Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: Yamamura, Tomohiko, Nozu, Kandai, Minamikawa, Shogo, Horinouchi, Tomoko, Sakakibara, Nana, Nagano, China, Aoto, Yuya, Ishiko, Shinya, Nakanishi, Koichi, Shima, Yuko, Nagase, Hiroaki, Rossanti, Rini, Ye, Ming J., Nozu, Yoshimi, Ishimori, Shingo, Morisada, Naoya, Kaito, Hiroshi, Iijima, Kazumoto
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2019
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732293/
https://ncbi.nlm.nih.gov/pubmed/31364286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.883
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