Avtor/Urednik | 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 | |
Naslov | Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality | |
Tip | članek | |
Vol. in št. | Letnik 59, št. 9 | |
Leto izdaje | 2022 | |
Obseg | str. 906-911 | |
ISSN | 1468-6244 - Journal of medical genetics | |
Jezik | eng | |
Proste vsebinske oznake | klinična genetika pljučna arterijska hipertenzija ATP13A3 gen pediatrija |