Article
In vivo and in vitro splicing assay of SLC12A1 in an antenatal salt-losing tubulopathy patient with an intronic mutation.
Human genetics - 1 Oct 2009
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
Abstract excerpt
Type I Bartter syndrome (BS), an inherited salt-losing tubulopathy, is caused by mutations of the SLC12A1 gene. While several intronic nucleotide changes in this gene have been detected, transcriptional analysis had not been conducted because mRNA analysis is possible only when renal biopsy specimens can be obtained or occasionally when mRNA is expressed in the leukocytes. This report concerns a type I BS patient...
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