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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Original Articles
Acesso em linha: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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