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RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome

✍ Scribed by Jean-Luc Alessandri; Nathalie Dagoneau; Jean-Marc Laville; Julien Baruteau; Jean-Christophe Hébert; Valérie Cormier-Daire


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
226 KB
Volume
152A
Category
Article
ISSN
1552-4825

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CARD15 mutations in familial granulomato
✍ Xiaoju Wang; Helena Kuivaniemi; Gina Bonavita; Lysette Mutkus; Ulrike Mau; Edwar 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 1 views

## Abstract ## Objective To analyze the __CARD15__ gene in families with heritable multi‐organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions. ## Methods Linkage mapping was performed in 10 families. Observed recombina