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De novo insertion of anAlusequence in the coding region of theCLCN5gene results in Dent's disease

✍ Scribed by Felix Claverie-Martin; Hilaria González-Acosta; Carlos Flores; Montserrat Antón-Gamero; Víctor García-Nieto


Book ID
106133861
Publisher
Springer
Year
2003
Tongue
English
Weight
294 KB
Volume
113
Category
Article
ISSN
0340-6717

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✍ Pau Pastor; Esteban Muñoz; Mario Ezquerra; Victor Obach; María José Martí; Franc 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 467 KB

## Abstract Missense mutations of the α‐synuclein gene have been reported to explain a few kindreds with autosomal dominant Parkinson's disease (PD). In order to identify mutations in our PD patients, we have screened the coding region and 5′flanking region of the gene. DNA samples from 50 patients