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Estimating the age of CFTR mutations predominantly found in Brittany (Western France)

✍ Scribed by Yann Fichou; Emmanuelle Génin; Cédric Le Maréchal; Marie-Pierre Audrézet; Virginie Scotet; Claude Férec


Book ID
119288584
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
134 KB
Volume
7
Category
Article
ISSN
1569-1993

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Comparison of the CFTR mutation spectrum
✍ Virginie Scotet; David E. Barton; James B.G. Watson; Marie-Pierre Audrézet; Trud 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 93 KB

This study aims to compare the spectrum of the mutations identified in the gene responsible for cystic fibrosis in three cohorts of patients of Celtic origin from Brittany and Ireland. It included 389 patients from Brittany, 631 from Dublin and 139 from Cork. The CFTR gene analysis relied on the det