Literature DB >> 2843770

Mosaicism for an intragenic deletion in a boy with mild ornithine transcarbamylase deficiency.

A Maddalena1, D M Sosnoski, G T Berry, R L Nussbaum.   

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Year:  1988        PMID： 2843770     DOI： 10.1056/NEJM198810133191507

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


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  23 in total

1.  A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

Authors:  A Hata; T Matsuura; C Setoyama; K Shimada; T Yokoi; I Akaboshi; I Matsuda
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  Replacement of arginine 773 by cysteine or histidine in the human androgen receptor causes complete androgen insensitivity with different receptor phenotypes.

Authors:  L Prior; S Bordet; M A Trifiro; A Mhatre; M Kaufman; L Pinsky; K Wrogeman; D D Belsham; F Pereira; C Greenberg
Journal:  Am J Hum Genet       Date:  1992-07       Impact factor: 11.025

3.  Arginine 109 to glutamine mutation in a girl with ornithine carbamoyl transferase deficiency.

Authors:  S Strautnieks; P Rutland; S Malcolm
Journal:  J Med Genet       Date:  1991-12       Impact factor: 6.318

4.  A case of PDH-E1 alpha mosaicism in a male patient with severe metabolic lactic acidosis.

Authors:  A Seyda; K Chun; S Packman; B H Robinson
Journal:  J Inherit Metab Dis       Date:  2001-10       Impact factor: 4.982

5.  Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

Authors:  B Arveiler; G de Saint-Basile; A Fischer; C Griscelli; J L Mandel
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

6.  Molecular analysis of hemophilia A mutations in the Finnish population.

Authors:  B Levinson; A E Lehesjoki; A de la Chapelle; J Gitschier
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025

7.  Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.

Authors:  W F Schwindinger; C A Francomano; M A Levine
Journal:  Proc Natl Acad Sci U S A       Date:  1992-06-01       Impact factor: 11.205

8.  Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

Authors:  R Hoshide; T Matsuura; S Komaki; E Koike; I Ueno; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.

Authors:  T Matsuura; R Hoshide; S Komaki; K Kiwaki; F Endo; S Nakamura; T Jitosho; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

10.  Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

Authors:  T Matsuura; R Hoshide; M Fukushima; T Sakiyama; M Owada; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982
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