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* NBME 12 question
 #726991  
  rabelbhimani - 03/25/13 17:39
 
 
Jansen metaphyseal dysplasia is an inherited single gene disorder caused by mutation of the parathyroid hormone receptor gene. The clinical phenotype of this disorder is quite similar to that of acquired hyperparathyroidism. This suggests that the mutation resulting in Jansen metaphyseal dysplasia most likely causes disease through which of the following mechanisms?


Anticipation
Dominant negative effect
Gain of function
Haploinsufficiency
Pleiotropy
 
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* Re:NBME 12 question
#2859701
  asg30 - 03/25/13 17:53
 
  gain of function??  
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