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Donor splice-site mutations in WT1 are responsible for Frasier syndrome

✍ Scribed by Barbaux, Sandrine; Niaudet, Patrick; Gubler, Marie-Claire; Grünfeld, Jean-Pierre; Jaubert, Francis; Kuttenn, Frédérique; Fékété, Claire Nihoul; Souleyreau-Therville, Nicole; Thibaud, Elisabeth; Fellous, Marc

Book ID
109918954
Publisher
Nature Publishing Group
Year
1997
Tongue
English
Weight
404 KB
Volume
17
Category
Article
ISSN
1061-4036

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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