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Kima Uche - Lesch-Nyhan Syndrome
Kima Uche - Lesch-Nyhan Syndrome

... The Deficient HPRT enzyme (as a consequence of mutation) has very limited functionality in a LNS patient In general, life expectancy caps at the 2 nd or 3rd decade of life Finger biting is a behavioral phenotype3 for LNS, often serving to ...
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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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