Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.-Reference-Cited by-同舟云学术

Phenotypic variability in male patients carrying the mutant ornithine transcarbamylase (OTC) allele, Arg40His, ranging from a child with an unfavourable prognosis to an asymptomatic older adult.

Published:1996-08-01 Issue:8 Volume:33 Page:645-648
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Matsuda I,Matsuura T,Nishiyori A,Komaki S,Hoshide R,Matsumoto T,Funakoshi M,Kiwaki K,Endo F,Hata A,Shimadzu M,Yoshino M

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. Urea cycle enzymes;Brusilow, S.W.; Horwich, A.L.,1995

2. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase;Horwich, A.L.; Fenton, W.A.; Williams, K.;Science,1984

3. Structure of the human ornithine transcarbamylase gene;Hata, A.; Tsuzuki, T.; Shimada, K.; Takiguchi, M.; Mori, M.; Matsuda, I.;J Biochem,1988

4. Retrospective survey of urea cycle disorders. Part 1. Clinical and laboratory observations of thirty-two Japanese male patients with ornithine transcarbamylase deficiency;Matsuda, I.; Nagata, N.; Oyanagi, K.;Am J Med Genet,1991

5. Retrospective survey of urea cycle disorders. Part 2. Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies;Nagata, N.; Matsuda, I.; Matsuura, T.;Am J Med Genet,1991

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1. Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity;Human Mutation;2021-06-03

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