Question: So-called “splice Site Mutations” Are Rather Common Among Recessive Alleles Associated With Heritable Disease In Humans. A) Please Define What Is Meant By A “splice Site Mutation”? B) Why Might They Be Seen More Frequently Than Missense Or Nonsense Mutations In Medical Genetic Diagnosis?

Question: So-called “splice Site Mutations” Are Rather Common Among Recessive Alleles Associated With Heritable Disease In Humans. A) Please Define What Is Meant By A “splice Site Mutation”? B) Why Might They Be Seen More Frequently Than Missense Or Nonsense Mutations In Medical Genetic Diagnosis?

So-called “splice site mutations” are rather common amongrecessive alleles associated with heritable disease in humans.

a) Please define what is meant by a “splice site mutation”?

b) Why might they be seen more frequently than missense ornonsense mutations in medical genetic diagnosis?

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