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Novel mutations in the a3 subunit of vacuolar H+-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis

โœ Scribed by T Michigami; T Kageyama; K Satomura; M Shima; K Yamaoka; M Nakayama; K Ozono


Book ID
117807562
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
137 KB
Volume
30
Category
Article
ISSN
8756-3282

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Novel mutations in the TCIRG1 gene encod
โœ Jean-Claude Scimeca; Danielle Quincey; Hugues Parrinello; Delphine Romatet; Josi ๐Ÿ“‚ Article ๐Ÿ“… 2003 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 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