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Results: 2
Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene
Authors: Hata, Akira Setoyama, Chiaki Shimada, Kazunori Takeda, Eiji Kuroda, Yasuhiro Akaboshi, Izumi Matsuda, Ichiro
Citation: Hata, Akira et al., Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene, American journal of human genetics , 45-I(1), 1989, pp. 123-127
A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection.
Authors: Saijo, Takahiko Ito, Michinori Takeda, Eiji Huq, A. H. M. Mahbubul Naito, Etsuo Yokota, Ichiro Sone, Teruki Pike, Wesley Kuroda, Yasuhiro
Citation: Saijo, Takahiko et al., A unique mutation in the vitamin D receptor gene in three Japanese patients with vitamin D-dependent rickets type II: utility of single-strand conformation polymorphism analysis for heterozygous carrier detection., American journal of human genetics , 49-I(3), 1991, pp. 668-673
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