The phenotype of a germline mutation in PIGA: The gene somatically mutated in paroxysmal nocturnal hemoglobinuria

Medicine & Life Sciences

• Paroxysmal Hemoglobinuria 100%
• Germ-Line Mutation 80%
• Phenotype 42%
• Genes 28%
• Mutation 14%
• Nervous System Malformations 6%
• Null Lymphocytes 6%
• Exome 6%
• Loss of Function Mutation 5%
• X Chromosome 5%
• Cleft Palate 5%
• Contracture 5%
• High-Throughput Nucleotide Sequencing 4%
• Transfection 4%
• Chromosomes 4%
• Erythrocytes 3%
• Seizures 3%
• Central Nervous System 3%
• Proteins 3%
• Child 2%
• Population 1%