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Microsatellite and trinucleotide repeat expansion diseases / David C. Rubinsztein.
- Format:
- Video
- Author/Creator:
- Rubinsztein, David C., (University of Cambridge, UK), Speaker.
- Series:
- Henry Stewart talks. Biomedical & life sciences collection. Introduction to human genetics and genomics.
- Introduction to human genetics and genomics, 2056-452X
- Language:
- English
- Subjects (All):
- Genetic disorders.
- Nervous system--Degeneration--Genetic aspects.
- Nervous system.
- 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 Expansion.
- Medical Subjects:
- 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 Expansion.
- Physical Description:
- 1 videorecording (30 min., 21 sec.)
- Place of Publication:
- London : Henry Stewart Talks, 2020.
- System Details:
- video file
- Contents:
- 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.
- Notes:
- Description based on publisher supplied metadata and other sources.
- Animated audio-visual presentation with synchronized narration.
- Title from title frames.
- Publisher Number:
- 5145 Henry Stewart Talks
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