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Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up

Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from the Shiraz region of Iran. The rarity of this...

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Bibliografiske detaljer
Udgivet i:Mol Genet Metab Rep
Main Authors: Woods, Jeremy, Cederbaum, Stephen
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2019
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6796764/
https://ncbi.nlm.nih.gov/pubmed/31641589
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2019.100517
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