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Carbonic anhydrase II deficiency in a Japanese patient produced by a nonsense mutation (TAT →TAG) at Tyr‐40 in exon 2, (Y40X)
Author(s) -
Soda Hiroko,
Yukizane Shigenori,
Yoshida Ichiro,
Aramaki Shuichi,
Kato Hirohisa
Publication year - 1995
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.1380050415
Subject(s) - medicine , nonsense , pediatrics , nonsense mutation , child health , university hospital , family medicine , mutation , genetics , biology , gene , missense mutation