Literature DB >> 18501801

Characterization of a splicing abnormality in Gitelman syndrome.

Keiji Iida1, Kandai Nozu, Yutaka Takahashi, Yasuhiko Okimura, Hidesuke Kaji, Masafumi Matsuo, Kazuo Chihara.   

Abstract

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Year:  2008        PMID： 18501801     DOI： 10.1053/j.ajkd.2008.03.031

Source DB:  PubMed          Journal:  Am J Kidney Dis        ISSN： 0272-6386            Impact factor:   8.860


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  2 in total

1.  In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.

Authors:  Kandai Nozu; Kazumoto Iijima; Kazuo Kawai; Yoshimi Nozu; Atsushi Nishida; Yasuhiro Takeshima; Xue Jun Fu; Yuya Hashimura; Hiroshi Kaito; Koichi Nakanishi; Norishige Yoshikawa; Masafumi Matsuo
Journal:  Hum Genet       Date:  2009-06-10       Impact factor: 4.132

2.  Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MR gene.

Authors:  Kyoko Kanda; Kandai Nozu; Naoki Yokoyama; Ichiro Morioka; Akihiro Miwa; Yuya Hashimura; Hiroshi Kaito; Kazumoto Iijima; Masafumi Matsuo
Journal:  BMC Nephrol       Date:  2009-11-14       Impact factor: 2.388
  2 in total

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