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- Title
Snx10: a newly identified locus associated with human osteopetrosis.
- Authors
Ye, Liang; Morse, Leslie R; Battaglino, Ricardo A
- Abstract
The authors comment on the study conducted by A. Pangrazio and colleagues which identified nine novel mutations in the Sorting Nexin 10 (SNX10) gene that are associated in the pathogenesis of autosomal recessive osteopetrosis (ARO). They discuss the osteopetrotic, nonsense and missense mutations reported in this study, which clearly establishes an important role of SNX10 in the etiology of ARO. They also stress the important clinical consequences of this study.
- Subjects
OSTEOPOROSIS; BONE disease genetics; SORTING nexins; NONSENSE mutation; MISSENSE mutation
- Publication
IBMS BoneKEy, 2013, Vol 10, Issue 10, p421
- ISSN
1940-8692
- Publication type
Article
- DOI
10.1038/bonekey.2013.155