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Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early‐onset OTC deficiency
Author(s) -
Matsuura Toshinobu,
Hoshide Ryuuji,
Kiwaki Kohji,
Komaki Satoru,
Koike Emiko,
Endo Fumio,
Oyanagi Kazuhiko,
Suzuki Yoshimi,
Kato Ineko,
Ishikawa Kaoru,
Yoda Hitoshi,
Kamitani Shigeki,
Sakaki Yoshiyuki,
Matsuda Ichiro
Publication year - 1994
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1380030415
Subject(s) - medicine , pediatrics , medical school , family medicine , medical education