Improved PCR/NcoI method for the molecular diagnosis of medium chain acyl-CoA dehydrogenase deficiency using dried blood samples: Two-stage amplification using two different sets of primers improves accuracy and sensitivity
Open Access
- 15 November 1993
- journal article
- Published by Elsevier in Clinica Chimica Acta; International Journal of Clinical Chemistry
- Vol. 220 (2) , 165-174
- https://doi.org/10.1016/0009-8981(93)90045-6
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
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- Frequency of the G985 MCAD mutation in the general populationThe Lancet, 1991
- Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation.Journal of Clinical Investigation, 1990
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