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...

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Publicat a:Hum Genet
Autors principals: Guay-Bélanger, Sabrina, Picard, Sylvain, Gagnon, Edith, Morissette, Jean, Siris, Ethel S., Orcel, Philippe, Brown, Jacques P., Michou, Laëtitia
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2014
Matèries:
Original Investigation
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4282700/
https://ncbi.nlm.nih.gov/pubmed/25241215
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-014-1488-3
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