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HPAH Barcelona Study

ABSTRACT: Data Access Committee EGAC00001001057

PROVIDER: EGAC00001001057 | EGA |

REPOSITORIES: EGA

ACCESS DATA

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Publications

Genetic linkage analysis of a large family identifies <i>FIGN</i> as a candidate modulator of reduced penetrance in heritable pulmonary arterial hypertension.

Puigdevall Pau P Piccari Lucilla L Blanco Isabel I Barberà Joan Albert JA Geiger Dan D Badenas Celia C Milà Montserrat M Castelo Robert R Madrigal Irene I

Journal of medical genetics 20190320 7

<h4>Background</h4>Mapping the genetic component of molecular mechanisms responsible for the reduced penetrance (RP) of rare disorders constitutes one of the most challenging problems in human genetics. Heritable pulmonary arterial hypertension (PAH) is one such disorder characterised by rare mutations mostly occurring in the bone morphogenetic protein receptor type 2 (<i>BMPR2</i>) gene and a wide heterogeneity of penetrance modifier mechanisms. Here, we analyse 32 genotyped individuals from a ...[more]

PMID: 30894412

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