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http://purl.uniprot.org/citations/27649371http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27649371http://www.w3.org/2000/01/rdf-schema#comment"Pulmonary arterial hypertension (PAH) is a rare devastating disease characterized by a high genetic heterogeneity with several related genes recently described, including BMPR2,TBX4 and KCNK3. The association between KCNK3 and PAH has been recently identified, but the prognosis and phenotype associated with these mutations have been poorly described. We studied a series of 136 idiopathic and hereditary PAH Spanish patients for BMPR2, TBX4 and KCNK3 mutations. We report the results of KCNK3 in which we were able to describe two new mutations (p.Gly106Arg and p.Leu214Arg) in three patients. The first one was found in a patient belonging to a consanguineous Romani family, who carried a homozygous mutation in KCNK3 and developed a severe and early form of the disease. To the best of our knowledge, this is the first time that a homozygous mutation in KCNK3 is reported in a PAH patient. The second one was found in a patient who presented at the young adult age a severe form of the disease. The present report supports the contribution of KCNK3 mutations to the genetic etiology of PAH and strongly suggests that mutations in KCNK3 follow incomplete dominance with worsening of the clinical features in homozygous patients."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.org/dc/terms/identifier"doi:10.1111/cge.12869"xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Palomino Doza J."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Lopez Meseguer M."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Arias Lajara P."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Escribano Subia P."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Gordo Trujillo G."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Lapunzina Abadia P."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Navas Tejedor P."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Roman Broto A."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/author"Tenorio Castano J."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/date"2017"xsd:gYear
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/name"Clin Genet"xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/pages"453-457"xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/title"An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension."xsd:string
http://purl.uniprot.org/citations/27649371http://purl.uniprot.org/core/volume"91"xsd:string
http://purl.uniprot.org/citations/27649371http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/27649371
http://purl.uniprot.org/citations/27649371http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/27649371
http://purl.uniprot.org/uniprot/#_B9EIJ4-mappedCitation-27649371http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27649371
http://purl.uniprot.org/uniprot/#_O14649-mappedCitation-27649371http://www.w3.org/1999/02/22-rdf-syntax-ns#objecthttp://purl.uniprot.org/citations/27649371
http://purl.uniprot.org/uniprot/B9EIJ4http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/27649371
http://purl.uniprot.org/uniprot/O14649http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/27649371