TY  - ADVS
AU  - Maher,E.R.
TI  - Mechanisms of human genetic disease
T2  - Introduction to human genetics and genomics,
PY  - 2021///
CY  - London
PB  - Henry Stewart Talks
KW  - Genetic disorders
KW  - Human genetics
KW  - Medical genetics
KW  - Gain of Function Mutation
KW  - Gene Dosage
KW  - Gene Expression Regulation
KW  - Genetic Diseases, Inborn
KW  - Genetics, Medical
KW  - Loss of Function Mutation
N1  - 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; Access restricted to subscribers
UR  - https://hstalks.com/bs/4623/
UR  - https://hstalks.com/bs/p/1069/
ER  -