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American Journal of Human Genetics|July 1, 1989
Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase geneA Hata, C Setoyama, K Shimada, et al.
Blood|July 1, 1995
AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD proteinH Nunoi, M Iwata, S Tatsuzawa, et al.
Humangenetik|October 20, 1975
Prenatal diagnosis of I-cell diseaseI Matsuda, S Arashima, T Mitsuyama, et al.
Human Genetics|May 1, 1991
A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiencyA Hata, T Matsuura, C Setoyama, et al.
Pediatric Research|October 1, 1979
Lysine intolerance in a variant form of citrullinemiaI Matsuda, S Arashima, Y Imanishi, et al.
Human Genetics|August 14, 1998
Prenatal diagnosis of ornithine transcarbamylase deficiency by using a single nucleated erythrocyte from maternal bloodA Watanabe, A Sekizawa, A Taguchi, et al.
Autonomic & Autacoid Pharmacology|September 29, 2011
Angiotensin II modifies the expression of α(1)-adrenoceptors in aorta smooth muscle cells of α(1D)-adrenoceptor knockout miceM L Lázaro-Suárez, J H Gómez-Zamudio, N L Delgado-Buenrostro, et al.
Blood|July 4, 2001
Improved superoxide-generating ability by interferon gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB geneF Ishibashi, T Mizukami, S Kanegasaki, et al.
Nihon Hinyokika Gakkai Zasshi. the Japanese Journal of Urology|March 11, 1998
[Inflammatory pseudotumor of the ureter: a case report]F Endo, S Matsumoto, A Naka, et al.
Pediatric Radiology|June 17, 1999
Reversibility of hyperintense globus pallidus on T 1-weighted MRI follow- ing surgery for a portosystemic shunt in an 8-year-old girlS Ikeda, Y Sera, M Yoshida, et al.
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