Molecular basis of αl-antitrypsin deficiency and emphysema associated with the αl-antitrypsin M_{mineral springs} allele

Biochemistry, Genetics and Molecular Biology

• Allele 100%
• Deficiency 100%
• Secretion (Process) 44%
• Messenger RNA 33%
• Pulse Rate 22%
• Homozygote 22%
• Neutrophil Elastase 22%
• Methionine 22%
• Monocyte 22%
• Anabolism 11%
• Mutant Protein 11%
• Normal Human 11%
• Cell Lysate 11%
• Amino Acid Substitution 11%
• Restriction Modification System 11%
• Codominance 11%
• Nucleic Acid Base Substitution 11%
• Genomics 11%
• Fibroblast 11%

Keyphrases

• Alpha-1 Antitrypsin Deficiency 100%
• Antitrypsin 100%
• Emphysema 100%
• Spring Cell 13%
• Complementary DNA (cDNA) 8%
• Post-translational 8%
• Blood Monocytes 8%
• Homozygote 8%
• Neutrophil Elastase 8%
• Pulse Labeling 8%
• 35S-methionine 8%
• Mutant Protein 4%
• Normal Human 4%
• Natural Substrate 4%
• European Ancestry 4%
• Genomic DNA (gDNA) 4%
• Polymorphism 4%
• Cell Lysate 4%
• Control Cell 4%
• Blotting 4%
• Normal Function 4%
• Cathodal 4%
• In Vitro Translation 4%
• Black Families 4%
• Amino Acid Substitution 4%
• Murine Fibroblasts 4%
• Restriction Endonuclease 4%
• Retroviral Transduction 4%
• M1 Cells 4%
• Immobilized pH Gradient 4%
• Gradient Analysis 4%
• Family Analysis 4%
• Z Allele 4%
• Intracellular Aggregation 4%
• Single-point mutation 4%
• Serum 1 4%
• Co-dominant 4%

Immunology and Microbiology

• Allele 100%
• Secretion (Process) 44%
• Monocyte 22%
• Neutrophil 22%
• Pulse Rate 22%
• Homozygote 22%
• Methionine 22%
• Normal Human 11%
• Gene Transfer 11%
• Cell Lysate 11%
• Biosynthesis 11%
• Amino Acid Substitution 11%
• Restriction Modification System 11%
• Nucleic Acid Base Substitution 11%
• Codominance 11%
• Fibroblast 11%
• In Vitro 11%