Figure 1From: Autosomal dominant pseudohypoaldosteronism type 1 with a novel splice site mutation in MRgene Nucleotide change. The nucleotide change identified in the pseudohypoaldosteronism type 1 (PHA1) patient by direct sequencing analysis. A heterozygous transition (a>c) at position -2 bp of the acceptor splice site of intron 6 led to the hypothesis that exon 7 might have been skipped in the transcript.Back to article page