Author/Editor | Machado, Rajiv D; Welch, Carrie L; Haimel, Matthias; Bleda, Marta; Colglazier, Elizabeth; Coulson, John D; Debeljak, Maruša; Ekstein, Josef; Fineman, Jeffery R; Golden, William Christopher; Vesel, Samo | |
Title | Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality | |
Type | članek | |
Vol. and No. | Letnik 59, št. 9 | |
Publication year | 2022 | |
Volume | str. 906-911 | |
ISSN | 1468-6244 - Journal of medical genetics | |
Language | eng | |
Keywords | klinična genetika pljučna arterijska hipertenzija ATP13A3 gen pediatrija |