A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency-Reference-Cited by-同舟云学术

A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency

Published:1991-01 Issue:1 Volume:87 Page:28-32
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Hata Akira,Matsuura Toshinobu,Setoyama Chiaki,Shimada Kazuniro,Yokoi Tohru,Akaboshi Izumi,Matsuda Ichiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF01213087.pdf

Reference27 articles.

1. Adachi T, Tanimura A, Asahina M (1963) A colorimetric determination of orotic acid. J Vitaminol 9:217?226

2. Briand P, Francois B, Rabier D, Cathelineau L (1982) Ornithine transcarbamylase deficiencies in human males; kinetic and immunochemical classification. Biochem Biophys Acta 704:100?106

3. Brusilow SW, Horwich AL (1989) Urea cycle enzymes. In: Scriber CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 629?663

4. Brusilow S, Valle D (1987) Allopurinol (AP) induced orotidinuria (ODNU): a test of heterozygosity for ornithine transcarbamylase (OTC) deficiency. Pediatr Res 21:289A

5. Chou PY, Fasman GD (1978) Prediction of secondary structure of proteins from their amino acid sequence. Adv Enzymol 47:45?148

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