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Keywords: mutation analysis
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Clin Sci (Lond) (2016) 130 (22): 2043–2052.
Published: 11 October 2016
... hypertension based on a customized kit and new sequencing technologies. In this manner we identified mutations in routinely assessed genes and one additional gene in PAH patients. genetics mutation analysis panel diagnostic pulmonary hypertension • In this study we present a new PAH...
Clin Sci (Lond) (2005) 109 (3): 257–263.
Published: 24 August 2005
... in understanding the role of genetic factors in PDB. bone turnover genetic susceptibility mutation analysis Paget's disease of bone (PDB) receptor activator of nuclear factor-κB (RANK) sequestosome 1 (SQSTM1) valosin-containing protein (VCP) Mutations in the VCP gene were identified...