Prenatal monitoring in a family at high
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Hoshide, Ryuuji; Matsuura, Toshinobu; Sagara, Yusuke; Kubo, Takahiko; Shimadzu,
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Article
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1996
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John Wiley and Sons
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English
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DNA analysis of a male propositus with ornithine transcarbamylase (OTC) deficiency documented an A-to-C substitution in position +4 of intron 1. No other abnormalities were observed in the OTC gene, or at 563 bp upstream of the 5' site, which included a promoter region, or at 383 bp downstream of th