Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population-Reference-Cited by-同舟云学术

Heterogeneity for mutations in medium chain acyl-CoA dehydrogenase deficiency in the UK population

Published:2008-06-28 Issue:4 Volume:40 Page:283-286
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Curtis Diana,Blakemore Alexandra I. F.,Engel Paul C.,Macgregor Donald,Besley Guy,Kolvraa Steen,Gregersen Niels

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1991.tb03097.x/fullpdf

Reference8 articles.

1. Frequency of the G985 mutation in the general population;Blakemore;Lancet,1991

2. Molecular characterisation of medium chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys 329-glu mutation in the MCAD gene and expression of inactive mutant protein in;Gregersen;E. coli. Hum. Genet.,1990

3. Nucleotide sequence of medium chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue;Kelly;Proc. Natl. Acad. Sci.,1987

4. Molecular lesion in patients with medium chain acyl-CoA dehydrogenase deficiency;Matsubara;Lancet,1990

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1. Structural insights into the pathogenicity of point mutations in human acyl-CoA dehydrogenase homotetramers;Journal of Biological Physics;2023-12-16

2. Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment;Endocrinology, Diabetes & Metabolism;2022-10-27

3. Assessment of the prevalence of the 985A>G MCAD mutation in the French-Canadian population using allele-specific PCR;Clinical Genetics;2007-05-29

4. MCAD deficiency and anaesthesia;Anaesthesia;1995-03

5. Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children;The Journal of Pediatrics;1994-03