WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome

Exon 9 mutations in the WT1 gene, withou

Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome

✍ Takao Kohsaka; Manabu Tagawa; Yasuro Takekoshi; Hiroko Yanagisawa; Keiko Tadokor 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB 👁 2 views

We report new mutations in exon 9 of the WT1 gene that did not alter the ratio of +/-KTS splice isoforms in two unrelated patients with Frasier syndrome (FS). The mutation of intron 9 inducing defective alternative splicing was reported to be responsible for this syndrome. The mutations found in our