Literature DB >> 8358428

Nonsense mutations and diminished mRNA levels.

I McIntosh, A Hamosh, H C Dietz.   

Abstract

Mesh：

Substances：

Year:  1993        PMID： 8358428     DOI： 10.1038/ng0793-219

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


× No keyword cloud information.
  22 in total

1.  Mutations and phenotype in isolated glycerol kinase deficiency.

Authors:  A P Walker; F Muscatelli; A N Stafford; J Chelly; N Dahl; H K Blomquist; J Delanghe; P J Willems; B Steinmann; A P Monaco
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

Authors:  A M Christiano; I Anton-Lamprecht; S Amano; U Ebschner; R E Burgeson; J Uitto
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

3.  A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine beta-synthase mRNA.

Authors:  M P Sperandeo; R de Franchis; G Andria; G Sebastio
Journal:  Am J Hum Genet       Date:  1996-12       Impact factor: 11.025

4.  A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia.

Authors:  L Ruzzi; L Gagnoux-Palacios; M Pinola; S Belli; G Meneguzzi; M D'Alessio; G Zambruno
Journal:  J Clin Invest       Date:  1997-06-15       Impact factor: 14.808

5.  Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype:phenotype correlation.

Authors:  C A Sargent; A Kidd; S Moore; J Dean; G T Besley; N A Affara
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

6.  Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.

Authors:  Charles M Krafchak; Hemant Pawar; Sayoko E Moroi; Alan Sugar; Paul R Lichter; David A Mackey; Shahzad Mian; Theresa Nairus; Victor Elner; Miriam T Schteingart; Catherine A Downs; Theresa Guckian Kijek; Jenae M Johnson; Edward H Trager; Frank W Rozsa; Md Nawajes Ali Mandal; Michael P Epstein; Douglas Vollrath; Radha Ayyagari; Michael Boehnke; Julia E Richards
Journal:  Am J Hum Genet       Date:  2005-09-14       Impact factor: 11.025

7.  Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

Authors:  D R Sjarif; R J Sinke; M Duran; F A Beemer; W J Kleijer; J K Ploos van Amstel; B T Poll-The
Journal:  J Med Genet       Date:  1998-08       Impact factor: 6.318

8.  Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Authors:  J B Sherman; N Raben; C Nicastri; Z Argov; H Nakajima; E M Adams; C M Eng; T M Cowan; P H Plotz
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

9.  Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Authors:  B S Andresen; T G Jensen; P Bross; I Knudsen; V Winter; S Kølvraa; L Bolund; J H Ding; Y T Chen; J L Van Hove
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

10.  Long-term survival of the exon 10 insertional cystic fibrosis mutant mouse is a consequence of low level residual wild-type Cftr gene expression.

Authors:  J R Dorin; B J Stevenson; S Fleming; E W Alton; P Dickinson; D J Porteous
Journal:  Mamm Genome       Date:  1994-08       Impact factor: 2.957
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.