Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2

Keyphrases

• Biallelic 100%
• Hypomorphic mutation 100%
• Uridine 100%
• Macrocytic Anemia 100%
• Hemoglobin A2 100%
• Developmental Delay 33%
• Rare Diseases 33%
• Protein Function 33%
• Functional Studies 33%
• Pathogenic Variants 33%
• Anemia 33%
• Abrogation 33%
• Blood Smear 33%
• Intractable Seizures 33%
• Mild Developmental Delay 33%
• Infantile Epileptic Encephalopathy 33%
• Anisocytosis 33%
• Pyrimidine Biosynthesis 33%
• Biallelic Variants 33%
• Gene Panel Sequencing 33%
• Hematological Traits 33%
• Poikilocytosis 33%

Biochemistry, Genetics and Molecular Biology

• Uridine 100%
• Hemoglobin A2 100%
• Protein Function 33%
• Target Cell 33%
• Next Generation Sequencing 33%
• Pyrimidine Biosynthesis 33%
• Poikilocytosis 33%
• Anisocytosis 33%