Honors Theses Open Access
 
Filters: Collection: "ir_htoa" Subject: "Resulting symptoms"
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1 Loret, AmyGenetic Modifiers of Severity in Collagen VI-Related Muscular DystrophyCollagen VI-related muscular dystrophies (COL6-RD) display phenotypic heterogeneity that includes mild Bethlem myopathy (BM), intermediate (INT), and severe Ullrich congenital muscular dystrophy (UCMD) phenotypes. COL6-RD are characterized by mutations within the collagen VI genes (COL6A1, COL6A2, a...heterogeneity; characterized; Resulting symptoms2019
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