Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients-Reference-Cited by-同舟云学术

Paternal transmission and slow elimination of mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients

Published:2007-11-20 Issue:1 Volume:53 Page:10-17
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Numata Sanae,Harada Eimei,Maeno Yasuki,Ueki Isao,Watanabe Yoriko,Fujii Chieko,Yanagawa Takashi,Takenaka Satoshi,Inoue Toshiro,Inoue Shinkai,Goushi Terufumi,Yasutake Tsutomu,Mizuta Toshihiko,Yoshino Makoto

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg2008202.pdf

Reference22 articles.

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2. Bonaïti-Pellié C, Pelet A, Ogier H, Nelson J-R, Largillière C, Bertlelot J, Saudubray J-M, Munnich A (1990) A possible sex difference in mutation rates in ornithine transcarbamylase deficiency. Hum Genet 84:163–166

3. Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW (1990a) Late-onset ornithine transcarbamylase deficiency in male patients. J Pediatr 117:897–902

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

5. Harada E, Nishiyori A, Tokunaga Y, Watanabe Y, Kuriya N, Kumashiro R, Kuno T, Kuromaru R, Hirose S, Ichikawa K, Yoshino M (2006) Late-onset ornithine transcarbamylase deficiency in male patients: prognostic factors and characteristics of plasma amino acid profile. Pediatr Int 48:105–111. doi: 10.1111/j.1442-200X.2006.02181.x

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