Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
作者： S. Genet , T. Cranston , H. R. Middleton-Price
关键词:
摘要: The high new mutation rate and the wide spectrum of mutations found in patients with ornithine carbamoyltransferase (OCT) deficiency means that direct analysis is essential for providing accurate carrier detection prenatal diagnosis affected families. We present our strategy OCT gene summarize results from 31 families a confirmed 34 suspected deficiency, describe 14 previously unreported mutations.
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