Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue

Medicine & Life Sciences

• SHORT syndrome 100%
• Gain of Function Mutation 87%
• Telomere 73%
• DNA 12%
• Uniparental Disomy 10%
• Bone Marrow Failure Disorders 10%
• Telomere Shortening 9%
• Lymphopenia 9%
• Skin Manifestations 8%
• Pluripotent Stem Cells 8%
• Pulmonary Fibrosis 8%
• Clustered Regularly Interspaced Short Palindromic Repeats 8%
• Loss of Function Mutation 8%
• Myelodysplastic Syndromes 8%
• DNA-Binding Proteins 8%
• Mutation 8%
• Proteins 8%
• DNA Replication 7%
• Hematopoietic Stem Cells 7%
• DNA Repair 6%
• Genes 5%
• B-Lymphocytes 5%
• Alleles 5%
• Maintenance 5%

Chemical Compounds

• Disorder 56%
• Mutation 56%
• Lymphopenia 32%
• Protein 27%
• Shortening 18%
• Molecular Cluster 10%