Molecular genetics of pulmonary arterial hypertension
| Main Author: | |
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| Format: | eBook |
| Language: | English |
| Published: |
London
Henry Stewart Talks
2014, 2014
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| Series: | Molecular genetics of human disease
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| Subjects: | |
| Online Access: | |
| Collection: | Henry Stewart Talks - Collection details see MPG.ReNa |
Table of 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.