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Keywords: mutation analysis
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Articles

Identification of genetic defects in pulmonary arterial hypertension by a new gene panel diagnostic tool

Jie Song, Christina A. Eichstaedt, Rebecca Rodríguez Viales, Nicola Benjamin, Satenik Harutyunova, Christine Fischer, Ekkehard Grünig, Katrin Hinderhofer
Journal: Clinical Science
Clin Sci (Lond) (2016) 130 (22): 2043–2052.
https://doi.org/10.1042/CS20160531
Published: 11 October 2016
... databases and in silico prediction programmes. To eliminate false positives direct Sanger sequencing is applied in a second sequencing step reaching 100% specificity. genetics mutation analysis panel diagnostic pulmonary hypertension • In this study we present a new PAH-specific...
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Articles

A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death

Tetsuo Konno, Masami Shimizu, Hidekazu Ino, Noboru Fujino, Katsuharu Uchiyama, Tomohito Mabuchi, Kenji Sakata, Tomoya Kaneda, Takashi Fujita, Eiichi Masuta, Hiroshi Mabuchi
Journal: Clinical Science
Clin Sci (Lond) (2006) 110 (1): 125–131.
https://doi.org/10.1042/CS20050189
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...
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Articles

Genetics of Paget's disease of bone

Anna Daroszewska, Stuart H. Ralston
Journal: Clinical Science
Clin Sci (Lond) (2005) 109 (3): 257–263.
https://doi.org/10.1042/CS20050053
Published: 24 August 2005
... 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 resorption...
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