Literature DB >> 7807932

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.

B S Andresen1, P Bross, I Knudsen, V Winter, S Kølvraa, L Bolund, N Gregersen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1994        PMID： 7807932     DOI： 10.1007/bf00711806

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


× No keyword cloud information.
  7 in total

1.  Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency.

Authors:  I Yokota; P M Coates; D E Hale; P Rinaldo; K Tanaka
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

2.  The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.

Authors:  S Kølvraa; N Gregersen; A I Blakemore; A K Schneidermann; V Winter; B S Andresen; D Curtis; P C Engel; D Pricille; W Rhead
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD).

Authors:  B S Andresen; P Bross; T G Jensen; V Winter; I Knudsen; S Kølvraa; U B Jensen; L Bolund; M Duran; J J Kim
Journal:  Am J Hum Genet       Date:  1993-09       Impact factor: 11.025

4.  Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

Authors:  N Gregersen; B S Andresen; P Bross; V Winter; N Rüdiger; S Engst; E Christensen; D Kelly; A W Strauss; S Kølvraa
Journal:  Hum Genet       Date:  1991-04       Impact factor: 4.132

5.  Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

Authors:  N Gregersen; A I Blakemore; V Winter; B Andresen; S Kølvraa; L Bolund; D Curtis; P C Engel
Journal:  Clin Chim Acta       Date:  1991-11-09       Impact factor: 3.786

Review 6.  Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Authors:  K Tanaka; I Yokota; P M Coates; A W Strauss; D P Kelly; Z Zhang; N Gregersen; B S Andresen; Y Matsubara; D Curtis
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

7.  A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene.

Authors:  B S Andresen; S Kølvraa; P Bross; L Bolund; D Curtis; H Eiberg; Z Zhang; D P Kelly; A W Strauss; N Gregersen
Journal:  Hum Mol Genet       Date:  1993-04       Impact factor: 6.150
  7 in total
  1 in total

1.  Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site.

Authors:  B Küchler; A G Abdel-Ghany; P Bross; A Nandy; I Rasched; S Ghisla
Journal:  Biochem J       Date:  1999-01-15       Impact factor: 3.857
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.