Biochemistry Quick USMLE Genetic Diseases

Chemistry
There are so many diseases to remember for the USMLE. Here are some High Yield Diseases to know!

Sample Data

Front B-Thalassemia
Back Point mutation of the B-globin gene.Decreasing the production of B-Gobin.This can affect:-Transcription of the gene, splicing, coding region, stability of the protein.
Tags #pointmutation
Front Ehlers Danlos Syndrome
Back Mutation in the genes encoding the alpha-chains of Type III collagen.
Tags #Autosomal Dominant
Front alpha-thalassemia
Back Recombination after misalignment can create unequal number of genes.Abberrant recombination in Alph-Thalassemia
Tags #Large Deletion
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