Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension c...
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
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Author / Creator
Machado, Rajiv D , Welch, Carrie L , Haimel, Matthias , Bleda, Marta , Colglazier, Elizabeth , Coulson, John D , Debeljak, Marusa , Ekstein, Josef , Fineman, Jeffrey R , Golden, William Christopher , Griffin, Emily L , Hadinnapola, Charaka , Harris, Michael A , Hirsch, Yoel , Hoover-Fong, Julie Elizabeth , Nogee, Lawrence , Romer, Lewis H , Vesel, Samo , Gräf, Stefan , Morrell, Nicholas W , Southgate, Laura , Chung, Wendy K and NIHR Bioresource – Rare Diseases
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
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Publication information
Publisher
England: BMJ Publishing Group Ltd
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Scope and Contents
Contents
BackgroundThe molecular genetic basis of pulmonary arterial hypertension (PAH) is heterogeneous, with at least 26 genes displaying putative evidence for disease causality. Heterozygous variants in the ATP13A3 gene were recently identified as a new cause of adult-onset PAH. However, the contribution of ATP13A3 risk alleles to child-onset PAH remains...
Alternative Titles
Full title
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
Authors, Artists and Contributors
Author / Creator
Welch, Carrie L
Haimel, Matthias
Bleda, Marta
Colglazier, Elizabeth
Coulson, John D
Debeljak, Marusa
Ekstein, Josef
Fineman, Jeffrey R
Golden, William Christopher
Griffin, Emily L
Hadinnapola, Charaka
Harris, Michael A
Hirsch, Yoel
Hoover-Fong, Julie Elizabeth
Nogee, Lawrence
Romer, Lewis H
Vesel, Samo
Gräf, Stefan
Morrell, Nicholas W
Southgate, Laura
Chung, Wendy K
NIHR Bioresource – Rare Diseases
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9411922
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_9411922
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2021-107831
