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The PTCH gene and Gorlin Syndrome
The PTCH gene and Gorlin Syndrome

... in an autosomal dominant manner ► Due to mutation in the PTCH gene ► Mutations can be detected in the laboratory in the majority of patients ► Once you know the mutation in a family, there are many options for family planning available ...
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Genetic Engineering - Roslyn Public Schools
Genetic Engineering - Roslyn Public Schools

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Point mutation



A point mutation, or single base modification, is a type of mutation that causes a single nucleotide base change, insertion, or deletion of the genetic material, DNA or RNA. The term frameshift mutation indicates the addition or deletion of a base pair. A point mutant is an individual that is affected by a point mutation.Repeat induced point mutations are recurring point mutations, discussed below.
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