Mechanisms of human genetic disease [electronic resource] / Eamonn R. Maher.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Introduction to human genetics and genomics: Publisher: London : Henry Stewart Talks, 2021Description: 1 online resource (1 streaming video file (38 min.) : color, sound)Subject(s): Genetic disorders | Human genetics | Medical genetics | Gain of Function Mutation | Gene Dosage | Gene Expression Regulation | Genetic Diseases, Inborn | Genetics, Medical | Loss of Function MutationOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
Contents: Mechanisms of human genetic disorders -- Loss of function effects -- Dominant negative mechanisms -- Increased gene dosage -- Gain of function effects -- Proteins toxicity -- Abnormal gene expression and regulation.
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Mode of access: World Wide Web.