Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene

We present a case of Dent disease caused by a novel intronic mutation, 1348-1G>A, of the chloride voltage-gated channel 5 (CLCN5) gene. Cultured proximal tubule cells obtained from the patient showed impaired acidification of the endosome and/or lysosome, indicating that the 1348-1G>A mutation...

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Detalles Bibliográficos
Autores principales: Matsumoto, Ayumi, Matsui, Isao, Mori, Takayasu, Sakaguchi, Yusuke, Mizui, Masayuki, Ueda, Yoshiyasu, Takahashi, Atsushi, Doi, Yohei, Shimada, Karin, Yamaguchi, Satoshi, Kubota, Keiichi, Hashimoto, Nobuhiro, Oka, Tatsufumi, Takabatake, Yoshitsugu, Sohara, Eisei, Hamano, Takayuki, Uchida, Shinichi, Isaka, Yoshitaka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6355425/
https://www.ncbi.nlm.nih.gov/pubmed/30101934
http://dx.doi.org/10.2169/internalmedicine.1272-18

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