Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the gene.
作者信息
Smith Frances, Hopton Sila, Dallabona Cristina, Gilberti Micol, Falkous Gavin, Norwood Fiona, Donnini Claudia, Gorman Gráinne S, Clark Barnaby, Taylor Robert W, Kulasekararaj Austin G
机构信息
Molecular Pathology, Viapath at King's College Hospital, London, UK.
Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.
出版信息
Haematologica. 2018 Dec;103(12):e564-e566. doi: 10.3324/haematol.2018.194464. Epub 2018 Jul 5.
Abstract
摘要
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