For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns-Reference-Cited by-同舟云学术

For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns

Published:1993-08 Issue:1 Volume:92 Page:49-56
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Matsuura Toshinobu,Hoshide Ryuuji,Setoyama Chiaki,Shimada Kazunori,Hase Yutaka,Yanagawa Toshihiko,Kajita Mitsuharu,Matsuda Ichiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00216144.pdf

Reference34 articles.

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

2. 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

3. Carstens RP, Fenton WA, Rosenberg LE (1991) Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency. Am J Hum Genet 48:1105?1114

4. Finkelstein JE, Francomano CA, Brusilow SW, Traystman MD (1990) Use of denaturing gradient gel electrophoresis for detection of mutation and prospective diagnosis in late onset ornithine transcarbamylase deficiency. Genomics 7:167?172

5. Fox JE, Hack AM, Fenton WA, Rosenberg LE (1986) Identification and application of additional restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Am J Hum Genet 38:841?847

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