_using-mass-spectrometry-and-proteomics-to-understand-the-mechanism-involved-in-cystic-fibrosis.jpg "Using Mass Spectrometry and Proteomics to Understand the Mechanism Involved in Cystic Fibrosis from gene code protein Video Screenshot Preview")
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⏲ Duration: 39 min 37 sec
✓ Published: 24-Sep-2020
✓ Published: 24-Sep-2020
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Speaker:nSandra Pankow, PhDnThe Scripps Research InstitutennINTRODUCTION: Cystic Fibrosis is a disease caused by mutations in the cystic fibrosis ion transport regulator gene (CFTR). The most common mutation, deletion of Phe at position 508 (DF508), results in a loss of function phenotype that causes a large number of clinical symptoms including chronic respiratory infections. At the protein level, the DF508 mutation causes the protein to misfold which results in rapid degradation of the protein
Speaker:nSandra Pankow, PhDnThe Scripps Research InstitutennINTRODUCTION: Cystic Fibrosis is a disease caused by mutations in the cystic fibrosis ion transport regulator gene (CFTR). The most common mutation, deletion of Phe at position 508 (DF508), results in a loss of function phenotype that causes a large number of clinical symptoms including chronic respiratory infections. At the protein level, the DF508 mutation causes the protein to misfold which results in rapid degradation of the protein
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