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Impact of enzyme activity assay on indication in liver transplantation for ornithine transcarbamylase deficiency

โœ Scribed by Taiichi Wakiya; Yukihiro Sanada; Taizen Urahashi; Yoshiyuki Ihara; Naoya Yamada; Noriki Okada; Kentaro Ushijima; Shinya Otomo; Koichi Sakamoto; Kei Murayama; Masaki Takayanagi; Kenichi Hakamada; Yoshikazu Yasuda; Koichi Mizuta

Book ID
116989701
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
259 KB
Volume
105
Category
Article
ISSN
1096-7192

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Prenatal monitoring in a family at high
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
โœ Hoshide, Ryuuji; Matsuura, Toshinobu; Sagara, Yusuke; Kubo, Takahiko; Shimadzu, ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 562 KB

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