Identification of seven novel missense m
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Consuelo Climent; Vicente Rubio
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Article
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2002
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John Wiley and Sons
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English
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Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve