Article
A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.
Pediatric research - 1 Nov 2009
Nozu Kandai, Iijima Kazumoto, Nozu Yoshimi, Ikegami Ei, Imai Takehide, Fu Xue Jun, Kaito Hiroshi, Nakanishi Koichi, Yoshikawa Norishige, Matsuo Masafumi
Abstract excerpt
Many mutations have been detected in the SLC12A3 gene of Gitelman syndrome (GS, OMIM 263800) patients. In previous studies, only one mutant allele was detected in approximately 20 to 41% of patients with GS; however, the exact reason for the nonidentification has not been established. In this study, we used RT-PCR using mRNA to investigate for the first time transcript abnormalities caused by deep intronic...
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