Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)

author
created [InstanceEdit:6787554] May, Bruce, 2015-07-14
dbId 6787578
displayName Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
journal Am. J. Hum. Genet.
pages 1303-8
pubMedIdentifier 15108122
schemaClass LiteratureReference
title Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)
url http://www.ncbi.nlm.nih.gov/pubmed/15108122
volume 74
year 2004
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