Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report
Abstract Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications. One of the causes of MLASA is the mutation in PUS1 gene that encodes for pseudouridine synthase. This PUS1 mutation results in...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
BMC
2024-08-01
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| Sraith: | BMC Medical Genomics |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1186/s12920-024-01983-8 |
| Clibeanna: |
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