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Pathology Genetics 6c9d51cb

An example for gain of function mutation is?

A
Osteogenesis imperfecta
B
Ehler danlos syndrome
C
Marfan syndrome
D
Huntington's disease
High-Yield Explanation
Ans. (d) Huntington's diseaseIn Huntington disease, the trinucleotide repeat mutation affecting the Huntington gene gives rise to an abnormal protein, called huntingtin, that is toxic to neurons causing neurologic deficit

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