Mutations in a new gene encoding a thiamine transporter cause thiamine- responsive megaloblastic anaemia syndrome

Keyphrases

• Thiamine Transporter 100%
• Thiamine-responsive Megaloblastic Anemia 100%
• Thiamine 50%
• SLC19A2 50%
• Type 1 Diabetes Mellitus (T1DM) 33%
• Megaloblastic Anemia 33%
• Skin Fibroblasts 16%
• Cultured Skin 16%
• Pharmacologic 16%
• Gene Products 16%
• Autosomal Recessive 16%
• Coding Region 16%
• Sequence Homology 16%
• Complementary DNA (cDNA) 16%
• Thrombocytopenia 16%
• Transmembrane Domain 16%
• Erythrocytes 16%
• Frameshift mutation 16%
• Genome Sequencing 16%
• Linkage Analysis 16%
• Exon 2 16%
• Leukopenia 16%
• Iranian Families 16%
• High-throughput Genomics 16%
• Human Fetal Brain 16%
• Eukaryotes 16%
• SLC19A1 16%
• Sensorineural Deafness 16%
• Plasma Membrane Transport 16%
• Reduced Folate Carrier 16%

Biochemistry, Genetics and Molecular Biology

• Thiamine Transporter 100%
• Thiamine 100%
• SLC19A2 33%
• Exon 11%
• Autosomal Recessive Disorder 11%
• Linkage Analysis 11%
• Folic Acid 11%
• Gene Product 11%
• Transmembrane Domain 11%
• Frameshift Mutation 11%
• Coding Region 11%
• Sequence Homology 11%
• Eukaryote 11%
• Thrombocytopenia 11%
• DNA Library 11%
• SLC19A1 11%
• Cell Membrane Transport 11%
• Fibroblast 11%
• Genomics 11%

Medicine and Dentistry

• Thiamine 100%
• Megaloblastic Anemia 100%
• Diabetes Mellitus 20%
• Skin Fibroblast 10%
• Autosomal Recessive Disorder 10%
• Sequence Homology 10%
• Gene Product 10%
• Thrombocytopenia 10%
• Erythrocyte 10%
• Frameshift Mutation 10%
• Sensorineural Hearing Loss 10%
• Exon 10%
• Linkage Analysis 10%
• Leukopenia 10%
• Cloning 10%
• DNA Library 10%
• Reduced Folate Carrier 10%
• Cell Membrane Transport 10%