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Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

✍ Scribed by Vezzoni, Paolo; Frattini, Annalisa; Orchard, Paul J.; Sobacchi, Cristina; Giliani, Silvia; Abinun, Mario; Mattsson, Jan P.; Keeling, David J.; Andersson, Ann-Katrin; Wallbrandt, Pia; Zecca, Luigi; Notarangelo, Luigi D.; Villa, Anna

Book ID: 109828476
Publisher: Nature Publishing Group
Year: 2000
Tongue: English
Weight: 738 KB
Volume: 25
Category: Article
ISSN: 1061-4036
DOI: 10.1038/77131

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Novel mutations in the TCIRG1 gene encod

Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis

✍ Jean-Claude Scimeca; Danielle Quincey; Hugues Parrinello; Delphine Romatet; Josi 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB

Fifty percent of the infantile malignant osteopetrosis (IMO) cases reported in the literature present mutations in the TCIRG1 gene encoding the 116-kDa osteoclast specific subunit of the vacuolar proton ATPase (ATP6I). In this study, we identified four novel mutations in a series of six IMO patients