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Keywords: mutation analysis
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Articles
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...
Articles
Clin Sci (Lond) (2006) 110 (1): 125–131.
Published: 12 December 2005
... The Biochemical Society 2006 hypertrophic cardiomyopathy myosin-binding protein mutation analysis sarcomeric protein sudden death HCM (hypertrophic cardiomyopathy) is a primary cardiac disorder, often inherited genetically, with heterogeneous clinical and morphological expression. Mutations...
Articles
Clin Sci (Lond) (2005) 109 (3): 257–263.
Published: 24 August 2005
... genetic susceptibility mutation analysis Paget's disease of bone (PDB) receptor activator of nuclear factor-κB (RANK) sequestosome 1 (SQSTM1) valosin-containing protein (VCP) PDB (Paget's disease of bone) is a common condition characterized by focal areas of increased osteoclastic bone...