1. Characterization of a Splicing Abnormality in Gitelman Syndrome
Keiji Iida, MD, PhD, Kandai Nozu, MD, PhD, Yutaka Takahashi, MD, PhD, Yasuhiko Okimura, MD, PhD, Hidesuke Kaji, MD, PhD, Masafumi Matsuo, MD, PhD, Kazuo Chihara, MD, PhD 
American Journal of Kidney Diseases 
Volume 51, Issue 6, Pages (June 2008)
DOI: /j.ajkd
Copyright © 2008 National Kidney Foundation, Inc. Terms and Conditions

2. Figure 1
Direct sequence analyses around exon 13 of TSC cDNA from (A) the patient and (B) an unaffected control. The analysis suggests the presence of 2 different transcripts in the patient, the sequences of which are different from that of the control. (C) Nested PCR revealed that in 1 of the transcripts, the first 7 nucleotides have been deleted from the beginning of exon 14 in the TSC cDNA (upper sequence), while the other was an insertion of 61 nucleotides preceding exon 14 (lower sequence).
American Journal of Kidney Diseases  , DOI: ( /j.ajkd )
Copyright © 2008 National Kidney Foundation, Inc. Terms and Conditions