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Novel mutation ofTCIRG1and clinical pictures of two infantile malignant osteopetrosis patients

✍ Scribed by Ping Yuan; Zhihui Yue; Liangzhong Sun; Weijun Huang; Bin Hu; Zhiyun Yang; Yuelin Hu; Hua Xiao; Hui Shi; Qing Zhou; Yiming Wang

Book ID
106231292
Publisher
Springer
Year
2010
Tongue
English
Weight
381 KB
Volume
29
Category
Article
ISSN
0914-8779

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Identification of a novel mutation in th
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis
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## Communicated by Arnold Munnich Autosomal recessive malignant infantile osteopetrosis (ARO) is characterized by severe osteosclerosis, pathologic fractures, hepatosplenomegaly, and pancytopenia. The pathophysiological basis is inadequate bone resorption due to osteoclast dysfunction. In the major

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 πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 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