皮尔森综合征中单体 7 和 RUNX1 突变的获得。
关键词: RUNX1 monosomy 7 pearson syndrome
Mesh : Blood Transfusion Chromosome Deletion Chromosomes, Human, Pair 7 / genetics Congenital Bone Marrow Failure Syndromes / genetics therapy Core Binding Factor Alpha 2 Subunit / genetics DNA, Mitochondrial / genetics Genetic Predisposition to Disease / genetics Humans Infant Lipid Metabolism, Inborn Errors / genetics therapy Male Membrane Proteins / genetics Mitochondrial Diseases / genetics therapy Muscular Diseases / genetics therapy Nerve Tissue Proteins / genetics Pancytopenia / genetics pathology Whole Exome Sequencing
来 源:
DOI:10.1002/pbc.28799
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