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Molecular basis of disease (2) - monogenic autosomal (autosomal recessive…
Molecular basis of disease (2) - monogenic autosomal
autosomal recessive conditions
inheritance patterns
calculating risk
Eg 2. Tay sachs disease
molecular basis
symptoms
interventions
eg 1: spinal muscular atrophy
molecular basis
symptoms
interventions
case studies/quiz, activity
autosomal dominant
inheritance patterns
calculating risk
de novo mutations
the problem of incomplete penetrance
variable expressivity and severity
eg: Duchenne muscular dystrophy or achondroplasia
molecular basis
symptoms
interventions
case studies, quiz, activity