Hoshide,R.: "Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency ; a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity." Am J Med Genet. 64.
Hoshide,R.: "Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency ; a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity." Am J Med Genet. 64.
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Hoshide,R.：“对鸟氨酸转氨甲酰酶 (OTC) 缺乏症高风险家庭进行产前监测；OTC 基因内含子 1 的位置 4 出现 A 到 C 转换的新突变，可能会消除酶活性
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