Molecular genetics of pulmonary arterial hypertension / Richard C. Trembath.

• 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.

Ämnesord

Genetic disorders.  (LCSH)

Molecular genetics.  (LCSH)

Pulmonary hypertension.  (LCSH)

Genetic Counseling.  (MeSH)

Genetic Predisposition to Disease.  (MeSH)

Bone Morphogenetic Protein Receptors, Type II  -- genetics. (MeSH)

Hypertension, Pulmonary  -- genetics. (MeSH)

Hypertension, Pulmonary  -- pathology. (MeSH)

Pulmonary Artery  -- pathology. (MeSH)