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Ciliopathies and oligogenic phenomena / Nicholas Katsanis.
- Format:
- Video
- Author/Creator:
- Katsanis, Nicholas, (Duke University, USA), Speaker.
- Series:
- Henry Stewart talks. Biomedical & life sciences collection. Molecular genetics of human disease.
- Molecular genetics of human disease, 2056-452X
- Language:
- English
- Subjects (All):
- Cilia and ciliary motion.
- Human molecular genetics.
- Medical genetics.
- Systems biology.
- Alleles.
- Cilia--genetics.
- Cilia--pathology.
- Genetics, Medical.
- Genome, Human.
- Mutation--genetics.
- Phenotype.
- Systems Biology.
- Medical Subjects:
- Alleles.
- Cilia--genetics.
- Cilia--pathology.
- Genetics, Medical.
- Genome, Human.
- Mutation--genetics.
- Phenotype.
- Systems Biology.
- Physical Description:
- 1 videorecording (54 min., 55 sec.) : sound, color.
- Place of Publication:
- London : Henry Stewart Talks, 2015.
- System Details:
- video file
- Contents:
- Contents: Ciliopathies: multisystemic disorders caused by structural and/or functional defects of the primary cilium
- Mutations in almost 100 genes discovered to date, no clear pattern between specific genes and specific phenotypes
- Functional interpretation of variants critical for understanding the contribution of alleles to disease severity and pleiotropy
- A systems-based consideration for the total amount of pathogenic variation in the ciliary proteome begins to predict clinical substructure.
- Notes:
- Description based on publisher supplied metadata and other sources.
- Animated audio-visual presentation with synchronized narration.
- Title from title frames.
- Publisher Number:
- 3712 Henry Stewart Talks
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