Article
Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone.
Calcified tissue international - 1 Feb 2021
Donáth Judit, Balla Bernadett, Pálinkás Márton, Rásonyi Rita, Vastag Gyula, Alonso Nerea, Prieto Beatriz Larraz, Vallet Mahéva, Ralston Stuart H, Poór Gyula
Abstract excerpt
Paget's disease of bone (PDB) is characterized by focal or multifocal increase in bone turnover. One of the most well-established candidate genes for susceptibility to PDB is Sequestosome 1 (SQSTM1). Mutations in SQSTM1 have been documented among Western-European, British and American patients with PDB. However, there is no information on SQSTM1 mutation status in PDB patients from the Central- and...
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