Genetic Variation of the Metabolic Disorder Homocystinuria

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dc.contributor.authorNorton, Alexandra
dc.dateSpring 2020en_US
dc.date.accessioned2020-04-23T13:55:52Z
dc.date.available2020-04-23T13:55:52Z
dc.date.issued4/21/2020
dc.descriptionThis is an informative poster based off research done via Honors College Fellowship.en_US
dc.description.abstractHomocystinuria is an autosomal recessive metabolic disease that leads to elevated levels of homocysteine due to functional defects in the enzyme cystathionine-beta-synthase (CBS). Globally, incidence is low, but appears higher in clinical samples from some regions, and effects on many patients, involving the skeletal, nervous and vascular systems, can be pronounced. Furthermore, some mutated patients exhibit no symptoms, and those who are heterozygous for a CBS mutation may be at increased risk for vascular disease.en_US
dc.description.sponsorshipFunded by Ball State Honors College.en_US
dc.identifier.citationhttps://ballstate.app.box.com/embed/s/7md564v786a3df3sl7w4w29vu0f1btu1?view=list&sortColumn=name&sortDirection=ASC&showItemFeedActions=true&showParentPath=trueen_US
dc.identifier.urihttp://cardinalscholar.bsu.edu/handle/20.500.14291/202113
dc.rightsAttribution-ShareAlike 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-sa/3.0/us/*
dc.subjectcysteineen_US
dc.subjecthomocysteineen_US
dc.subjectHCUen_US
dc.subjectHonors fellowshipen_US
dc.subjectCBSen_US
dc.subjectmutationen_US
dc.subjectvascular diseaseen_US
dc.subjectskeletal issuesen_US
dc.subjectstrokeen_US
dc.subjectnearsightednessen_US
dc.subjectrareen_US
dc.subjectgenetic diseaseen_US
dc.titleGenetic Variation of the Metabolic Disorder Homocystinuriaen_US
dc.typePosteren_US
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