Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"recessive defect"”.
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Characterization of the brain as a site of fructose metabolism and of an aldolase B knockout mouse that mimics human hereditary fructose intolerance
… same metabolism in humans. A serious autosomal recessive defect in fructose metabolism, called hereditary fructose intolerance (HFI), is caused by mutations in the aldolase B gene (ALDOB, human; Aldo2, mouse). With low levels of fructose exposure, HFI patients develop NAFLD and liver fibrosis, …
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Mapping of monogenic and quantitative trait loci using a whole genome scan approach and single nucleotide polymorphism platforms
… genomic regions in beef cattle populations. The recessive defect, hypotrichosis is an autosomal recessive form of hairlessness that affects Hereford cattle. A whole-genome association analysis was conducted using BovineSNP50 BeadChip to map the hypotrichosis locus to a chromosomal region. …