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...

Descripción completa

Detalles Bibliográficos
Autores principales: Guay-Bélanger, Sabrina, Picard, Sylvain, Gagnon, Edith, Morissette, Jean, Siris, Ethel S., Orcel, Philippe, Brown, Jacques P., Michou, Laëtitia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Original Investigation
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

Internet

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

Ejemplares similares