Prevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region

ABSTRACT Introduction/Aims Hereditary transthyretin amyloidosis (ATTRv) is a genetic condition caused by pathogenic variants in the transthyretin (TTR) gene resulting in multisystem amyloid deposition, especially in peripheral nerve and heart. Information on the prevalence of ATTRv in the United Sta...

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Veröffentlicht in:	Muscle & nerve 2024-12, Vol.71 (2), p.252-256
Hauptverfasser:	Jacoby, Ellie, Quan, Dianna, Todd, Emily, Shortt, Jonathan, Smith, Harry, Rafaels, Nicholas, Crooks, Kristy, Anderson, Heather D., Aquilante, Christina L., Arbogast, Kelsey, Arehart, Christopher H., Brooks, Ian M., Brunetti, Tonya M., Brutus‐Lestin, Judith, Burke, Elizabeth E., Casteel, Emily M., Cole, Joanne B., Coughlin, Curtis R., Crawford, Jacob, Culver, Erin, Edelmann, Michelle N., Fisher, Matthew J., Franklin, Alan W., Frye, Teresa C., George, Hunter, Gignoux, Chris R., Gilliland, Elizabeth K., Greene, Casey S., Hawkes, Brooke, Hearst, Emily, Hendricks, Audrey E., Johnson, Randi K., Julian, Colleen G., Kao, Dave, Konigsberg, Iain, Ku, Lisa, Kudron, Elizabeth L., Lacy, Rashawnda, Lange, Ethan M., Lee, Yee Ming, Lesny, Joe A., Lin, Meng, Lowery, Jan T., Vargas, Luciana B., Maldonado, Betzaida L., Marceau, Darcy, Martin, James L., Gates, Brianna L., Mayer, David, McDaniel, Nicole L., Monte, Andrew, Moore, Ethan, Nadrash, Ann, Pattee, Jack, Pozdeyev, Nikita, Radwan, Alaa, Rafaels, Nick, Raghavan, Sridharan, Rasouli, Neda, Shalowitz, Elise L., Sherif, Hoda, Shortt, Johnathan A., Stewart, Adrian M., Sutton, Kristen J., Swartz, Carolyn T., Tanaka, Anna, Taylor, Matthew R.G., Teague, Candace, Todd, Emily B., Trinkley, Katy E., Wiley, Laura K.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amyloidosis Gene sequencing Genetic screening genetics Genotyping hereditary amyloidosis Mountain regions Mountains Nucleotides Peripheral nerves Polymorphism Population genetics Population studies Precision medicine Single-nucleotide polymorphism Transthyretin TTR prevalence Val142Ile Whole genome sequencing
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