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Osteoporosis International
Published in: Osteoporosis International 7/2007

01-07-2007 | Letter

A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome

Authors: E. R. Barros, M. R. Dias da Silva, I. S. Kunii, O. M. Hauache, M. Lazaretti-Castro

Published in: Osteoporosis International | Issue 7/2007

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Excerpt

Dear Editor, …
Literature
1.
Westendorf JJ, Kahler RA, Schroeder TM (2004) Wnt signaling in osteoblasts and bone diseases. Gene 341:19–39PubMedCrossRef
2.
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM et al (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107(4):513–523PubMedCrossRef
3.
Stone EA, Sidow A (2005) Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res 15(7):978–986PubMedCrossRef
Metadata
Title
A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome
Authors
E. R. Barros
M. R. Dias da Silva
I. S. Kunii
O. M. Hauache
M. Lazaretti-Castro
Publication date
01-07-2007
Publisher
Springer-Verlag
Published in
Osteoporosis International / Issue 7/2007
Print ISSN: 0937-941X
Electronic ISSN: 1433-2965
DOI
https://doi.org/10.1007/s00198-007-0360-x

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