Williams-Beuren syndrome locus [electronic resource] : a model of CNV affecting gene dosage and phenotypes / Lucy R. Osborne.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Copy number variation: Publisher: London : Henry Stewart Talks, 2009Description: 1 online resource (1 streaming video file (31 min.) : color, sound)Subject(s): Gene Dosage | Genetic Variation | Genotype | Phenotype | Williams Syndrome -- geneticsOnline resources: Click here to access online | Series Animated audio-visual presentation with synchonized narration.
Title from title frames.
Contents: Clinical overview of WBS -- Genetic basis of WBS, including the role of elastin --Mechanisms of rearrangement at the WBS locus -- Occurrence and implications of inversions of the WBS region -- Duplication of the WBS region -- Comparison of gain and loss at the WBS locus -- Genotype-phenotype relationships in WBS.
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Mode of access: World Wide Web.