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4349 Biochemistry

Null mutation is :

AMutation occuring in Non Coding region.
BMutation that does not change the amino acid or end product
CMutation that codes for a change in progeny without any chromosomal change
DMutation that leads to no functional gene product
Biochemistry
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4355 Biochemistry

A 2 year old retarded child is evaluated by a metabolic specialist. The child’s history is significant for failure to thrive and progressive neurologic deterioration, including deafness and blindness. Physical examination is remarkable for hepatosplenomegaly, as well as a cherry-red spot on funduscopic examination. These symptoms are consistent with a diagnosis of?

AHunter syndrome
BNiemann-Pick disease
CPompe's disease
DTyrosinosis
Biochemistry
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