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New evidence for a mutation hotspot in exon 37 of the NF1 gene

✍ Scribed by Annett Böddrich; Peter N. Robinson; Markus Schülke; Annegret Buske; Sigrid Tinschert; Peter Nürnberg


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
132 KB
Volume
9
Category
Article
ISSN
1059-7794

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## Abstract We present a vertical transmission of a nonsense mutation in exon 1 of the Wilms' tumor __WT1__ gene, from a mother who had Wilms' tumor in infancy and decreased fertility at adulthood, to her son who displayed genitourinary (GU) anomalies, gonadal dysgenesis with gonadoblastoma foci, a