Literature DB >> 9452065

Y55D mutation in ornithine transcarbamylase associated with late-onset hyperammonemia in a male.

A Nishiyori1, M Yoshino, Y Tananari, T Matsuura, R Hoshide, I Mastuda, M Mori, H Kato.   

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Year:  1998        PMID： 9452065     DOI： 10.1002/humu.1380110144

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

1.  Late-onset ornithine transcarbamylase deficiency associated with hyperammonemia.

Authors:  Kana Daijo; Tomokazu Kawaoka; Takashi Nakahara; Yuko Nagaoki; Masataka Tsuge; Akira Hiramatsu; Michio Imamura; Yoshiiku Kawakami; Hiroshi Aikata; Keiichi Hara; Go Tajima; Masao Kobayashi; Kazuaki Chayama
Journal:  Clin J Gastroenterol       Date:  2017-06-09

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

Authors:  Sanae Numata; Eimei Harada; Yasuki Maeno; Isao Ueki; Yoriko Watanabe; Chieko Fujii; Takashi Yanagawa; Satoshi Takenaka; Toshiro Inoue; Shinkai Inoue; Terufumi Goushi; Tsutomu Yasutake; Toshihiko Mizuta; Makoto Yoshino
Journal:  J Hum Genet       Date:  2007-11-20       Impact factor: 3.172

3.  Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.

Authors:  Aparna Prasad; Matthew A Sdano; Rena J Vanzo; Patricia A Mowery-Rushton; Moises A Serrano; Charles H Hensel; E Robert Wassman
Journal:  BMC Med Genet       Date:  2018-03-20       Impact factor: 2.023
  3 in total

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