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