Microsatellite and trinucleotide repeat expansion diseases [electronic resource] / David C. Rubinsztein.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Introduction to human genetics and genomics: Publisher: London : Henry Stewart Talks, 2020Description: 1 online resource (1 streaming video file (30 min.) : color, sound)Subject(s): Genetic disorders | Nervous system -- Degeneration -- Genetic aspects | Neurogenetics | Amyotrophic Lateral Sclerosis -- genetics | C9orf72 Protein | Fragile X Syndrome -- genetics | Friedreich Ataxia -- genetics | Frontotemporal Dementia -- genetics | Gain of Function Mutation | Human Genetics | Huntington Disease -- genetics | Microsatellite Repeats | Myotonic Dystrophy -- genetics | Neurodegenerative Diseases -- genetics | Trinucleotide Repeat ExpansionOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
Contents: Mendelian neurodegenerative diseases are caused by repeat expansions -- The mutation can result in gain-of-function or loss-of-function -- Fragile X syndrome -- Myotonic dystrophy -- Huntington's disease -- Friedrich's ataxia -- C9orf72.
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Mode of access: World Wide Web.