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Detection of SQSTM1/P392L post-zygotic mutations in Paget’s disease of bone
Paget’s disease of bone (PDB) is transmitted, in one-third of cases, in an autosomal dominant mode of inheritance with incomplete penetrance. The SQSTM1/P392L germinal mutation is the most common mutation associated with PDB. Given the focal nature of PDB, one team of investigators showed that SQSTM...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Berlin Heidelberg
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4282700/ https://www.ncbi.nlm.nih.gov/pubmed/25241215 http://dx.doi.org/10.1007/s00439-014-1488-3 |