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Molecular basis of disease (1) (genes to protein (gene expression)…
Molecular basis of disease (1)
protein structure
gene structure
genes to protein (gene expression)
transcription & translation
regulation of gene expression
alternate splicing
chromatin remodelling
microRNA
clinical significance of genetic changes
chromosomal
single gene (eg. CFTR)
altered rate of expresion
loss of function
gain of function
altered function
polymorphism vs variant vs mutation
genetic changes
single gene
chromosomal
molecular basis of non-mendelian inheritance patterns
lethal genotypes
multiple alleles
incomplete dominance
pleiotropy
penetrance
variable expressivity
phenocopies
pseudogenes
epistasis
Cytogenetics module
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