The authors report no conflict of interests.
Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal
Article first published online: 28 JUL 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 85, Issue 6, pages 555–561, June 2014
How to Cite
Ventura, F.V., Leandro, P., Luz, A., Rivera, I.A., Silva, M.F.B., Ramos, R., Rocha, H., Lopes, A., Fonseca, H., Gaspar, A., Diogo, L., Martins, E., Leão-Teles, E., Vilarinho, L. and Tavares de Almeida, I. (2014), Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. Clinical Genetics, 85: 555–561. doi: 10.1111/cge.12227
These two authors contributed equivalently to this work.
- Issue published online: 26 APR 2014
- Article first published online: 28 JUL 2013
- Accepted manuscript online: 6 JUL 2013 08:48AM EST
- Manuscript Revised: 2 JUL 2013
- Manuscript Accepted: 2 JUL 2013
- Manuscript Received: 24 APR 2013
- Portuguese Society for Metabolic Disorders
- Fundação para a Ciência e Tecnologia
|cge12227-sup-0001-FigureS1.jpg||JPEG image||61K||Fig S1. Two novel mutations: c.503A>T (p.Asp168Val) in exon 7 (a) and c.1205G>T (p.Gly402Val) in exon 12 (b) identified by DNA sequencing of two patients heterozygous for the c.985AG mutation. See Materials and Methods for more details. The mutated base is indicated by an arrow.|
|cge12227-sup-0002-TableS1.doc||Word document||35K||Table S1. Oligonucleotides used for the screening of the c.985A>G mutation and for haplotype identification in the ACADM gene|
Please note: Wiley Blackwell is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.