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Article

Genetic approach to prenatal diagnosis in urea cycle defects

1 May 2004

Abstract excerpt

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...

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PMID: 15164414
DOI: 10.1002/pd.884

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