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Literature summary for 5.4.99.B22 extracted from

  • Bykhovskaya, Y.; Casas, K.; Mengesha, E.; Inbal, A.; Fischel-Ghodsian, N.
    Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA) (2004), Am. J. Hum. Genet., 74, 1303-1308.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 5.4.99.B22

Organism

Organism UniProt Comment Textmining
Homo sapiens Q9Y606
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-

Source Tissue

Source Tissue Comment Organism Textmining
bone marrow
-
 Homo sapiens
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brain
-
 Homo sapiens
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heart
-
 Homo sapiens
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liver
-
 Homo sapiens
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skeletal muscle
-
 Homo sapiens
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Synonyms

Synonyms Comment Organism
pseudouridine synthase 1
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction missense mutation in PUS1 causes mitochondrial myopathy and sideroblastic anemia (a rare, autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow) Homo sapiens