Associated Papers
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.
Yuan JH et al.
Journal of Human Genetics, 2025
Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel PUS1 R144Q mutation, remarkable response to somatropin, and review of the literature.
Parisi L et al.
Haematologica, 2025
40438980 (PubMed )
Supplement: 2025_287393_PARISI_SUPPL.pdf
Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.
Ammar M et al.
Annals of Hematology, 2025
Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.
Woods J et al.
Molecular Genetics and Metabolism Reports, 2019
A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.
Daniels EG et al.
Cold Spring Harbor Molecular Case Studies, 2019
31653659 (PubMed )
Supplement: supp_mcs.a004457_Supplemental_Material.pdf
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M et al.
Neurogenetics, 2016
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