Molecular genetics of pulmonary arterial hypertension [electronic resource] / Richard C. Trembath.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Molecular genetics of human disease: Publisher: London : Henry Stewart Talks, 2014Description: 1 online resource (1 streaming video file (21 min.) : color, sound)Subject(s): Genetic disorders | Molecular genetics | Pulmonary hypertension | Bone Morphogenetic Protein Receptors, Type II -- genetics | Genetic Counseling | Genetic Predisposition to Disease | Hypertension, Pulmonary -- genetics | Hypertension, Pulmonary -- pathology | Pulmonary Artery -- pathologyOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
Contents: Histopathology of PAH -- Familial PAH: classical linkage -- Variable age of onset and penetrance -- Pathogenesis of HHT & PAH -- Key genes in the pathogenesis of PAH -- The BMPR2 mutation (classification as iPAH) -- Different kinds of genetic factors for PAH -- A locus for susceptibility to PAH -- Exome sequencing for disease causing variants -- Mutation locations in KCNK3 -- Variants identified in familial and idiopathic PAH -- Potential role of gene mutations in PAH -- Genetic counselling for PAH -- Asymptomatic relatives and families without mutation -- Aim of latest research in UK.
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Mode of access: World Wide Web.