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PAX2 mutations in renal–coloboma syndrome: mutational hotspot and germline mosaicism

✍ Scribed by Augé, Joelle; Bouissou, François; Antignac, Corinne; Gubler, Marie-Claire; Amiel, Jeanne; Audollent, Sophie; Joly, Dominique; Dureau, Pascal; Salomon, Rémi; Tellier, Anne-Lorraine


Book ID
110025033
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
608 KB
Volume
8
Category
Article
ISSN
1018-4813

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✍ Lisa A. Schimmenti; Heather H. Shim; Jonathan D. Wirtschafter; Valerie A. Panzar 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 514 KB

Renal-Coloboma syndrome, an autosomal dominant disorder characterized by colobomatous eye defects, vesicoureteral reflux, and abnormal kidneys, results from mutations in PAX2. The purpose of this study was to identify mutations in PAX2 and understand the associated patient phenotypes. We report a se