Literature DB >> 4681915

Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

E M Short, H O Conn, P J Snodgrass, A G Campbell, L E Rosenberg.   

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Year:  1973        PMID： 4681915     DOI： 10.1056/NEJM197301042880102

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  30 in total

1.  Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.

Authors:  R P Carstens; W A Fenton; L R Rosenberg
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.

Authors:  H Kodama; A Ohtake; M Mori; I Okabe; M Tatibana; S Kamoshita
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  Undiagnosed Partial Ornithine Transcarbamylase Deficiency Presenting Postoperatively as Agitated Delirium.

Authors:  E D Goldstein; R Cannistraro; P S Atwal; J F Meschia
Journal:  Neurohospitalist       Date:  2017-09-12

4.  X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors:  F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

5.  The gene for human liver arginase (ARG1) is assigned to chromosome band 6q23.

Authors:  R S Sparkes; G J Dizikes; I Klisak; W W Grody; T Mohandas; C Heinzmann; S Zollman; A J Lusis; S D Cederbaum
Journal:  Am J Hum Genet       Date:  1986-08       Impact factor: 11.025

6.  Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.

Authors:  J W McReynolds; B Crowley; M J Mahoney; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

7.  Autosomal genetic control of the activity of a new variant ornithine transcarbamylase in chicken kidney.

Authors:  S Tsuji; T Fukushima
Journal:  Biochem Genet       Date:  1976-06       Impact factor: 1.890

8.  In vitro synthesis of a putative precursor of mitochondrial ornithine transcarbamoylase.

Authors:  J G Conboy; F Kalousek; L E Rosenberg
Journal:  Proc Natl Acad Sci U S A       Date:  1979-11       Impact factor: 11.205

9.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  Structure of the rat ornithine carbamoyltransferase gene, a large, X chromosome-linked gene with an atypical promoter.

Authors:  M Takiguchi; T Murakami; S Miura; M Mori
Journal:  Proc Natl Acad Sci U S A       Date:  1987-09       Impact factor: 11.205
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