Osborne, Lucy R.,
Williams-Beuren syndrome locus a model of CNV affecting gene dosage and phenotypes / [electronic resource] : Lucy R. Osborne. - London : Henry Stewart Talks, 2009. - 1 online resource (1 streaming video file (31 min.) : color, sound). - Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Copy number variation. .
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.
Access restricted to subscribers.
Mode of access: World Wide Web.
2203 Henry Stewart Talks
Gene Dosage.
Genetic Variation.
Genotype.
Phenotype.
Williams Syndrome--genetics.
Williams-Beuren syndrome locus a model of CNV affecting gene dosage and phenotypes / [electronic resource] : Lucy R. Osborne. - London : Henry Stewart Talks, 2009. - 1 online resource (1 streaming video file (31 min.) : color, sound). - Copy number variation : expanding the repertoire of genetic alterations in studies of natural variation and disease, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Copy number variation. .
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.
Access restricted to subscribers.
Mode of access: World Wide Web.
2203 Henry Stewart Talks
Gene Dosage.
Genetic Variation.
Genotype.
Phenotype.
Williams Syndrome--genetics.