Variable Expressivity of a Founder Mutation in the EIF2AK4 Gene in Hereditary Pulmonary Veno-occlusive Disease and Its Impact on Survival.
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DOI: 10.1016/j.rec.2017.03.034
Abstract: Abstract Introduction and objectives Hereditary pulmonary veno-occlusive disease (PVOD) has been associated with biallelic mutations in EIF2AK4 with the recent discovery of a founder mutation in Iberian Romani patients with familial PVOD. The aims of… read more here.
Keywords: founder; mutation eif2ak4; impact; disease ... See more keywords