๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Osteopetrorickets: infantile malignant osteopetrosis paradoxically complicated by rickets

โœ Scribed by Deepa R. Biyyam; Stephen Done


Book ID
105941545
Publisher
Springer-Verlag
Year
2009
Tongue
English
Weight
74 KB
Volume
40
Category
Article
ISSN
0301-0449

No coin nor oath required. For personal study only.


๐Ÿ“œ SIMILAR VOLUMES


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