Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome

X-linked Alport syndrome (XLAS) is a progressive, hereditary nephropathy. Although men with XLAS usually develop end-stage renal disease before 30 years of age, some men show a milder phenotype and develop end-stage renal disease later in life. However, the molecular mechanisms associated with this...

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Publicado en:Eur J Hum Genet
Autores principales: Fu, Xue Jun, Nozu, Kandai, Kaito, Hiroshi, Ninchoji, Takeshi, Morisada, Naoya, Nakanishi, Koichi, Yoshikawa, Norishige, Ohtsubo, Hiromi, Matsunoshita, Natsuki, Kamiyoshi, Naohiro, Matsumura, Chieko, Takagi, Nobuaki, Maekawa, Kohei, Taniguchi-Ikeda, Mariko, Iijima, Kazumoto
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4755365/
https://ncbi.nlm.nih.gov/pubmed/26014433
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.113
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