In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation-Reference-Cited by-同舟云学术

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

Published:2009-06-10 Issue:4 Volume:126 Page:533-538
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Nozu Kandai,Iijima Kazumoto,Kawai Kazuo,Nozu Yoshimi,Nishida Atsushi,Takeshima Yasuhiro,Fu Xue Jun,Hashimura Yuya,Kaito Hiroshi,Nakanishi Koichi,Yoshikawa Norishige,Matsuo Masafumi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-009-0697-7.pdf

Reference17 articles.

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2. Birkenhager R, Otto E, Schurmann MJ et al (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29(3):310–314

3. Brochard K, Boyer O, Blanchard A, et al (2009) Phenotype–genotype correlation in antenatal and neonatal variants of Bartter syndrome. Nephrol Dial Transplant 24(5):1455–1464

4. Igarashi T, Inatomi J, Ohara T et al (2000) Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent’s disease. Kidney Int 58(2):520–527

5. Iida K, Nozu K, Takahashi Y et al (2008) Characterization of a splicing abnormality in Gitelman syndrome. Am J Kidney Dis 51(6):1077–1078

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