Genetic approach to prenatal diagnosis in urea cycle defects.

  title={Genetic approach to prenatal diagnosis in urea cycle defects.},
  author={Johannes H{\"a}berle and Hans Georg Koch},
  journal={Prenatal diagnosis},
  volume={24 5},
OBJECTIVE To demonstrate the feasibility of prenatal diagnosis by molecular genetics in all urea cycle defects in order to improve and standardize the current approaches. METHODS Deceased index patients who had suffered from a urea cycle disorder were investigated for mutations of the biochemically most likely affected gene. If no material of index patients was available, parental DNA was studied for obligate carrier status. Fetal cells of 15 pregnancies, either chorionic villi or amniotic… CONTINUE READING


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