| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1998388 | Molecular Genetics and Metabolism | 2012 | 8 Pages |
Abstract
⺠Four times more newborns with MCADD are detected by screening than expected. ⺠Mutation spectrum in the newborns is different from that in patients. ⺠There is a reduced penetrance of the c.985A>G mutation. ⺠Frequency of c.985A>G homozygotes is twice that predicted from the carrier frequency. ⺠Rapid genotyping of initial blood spot is important for diagnosis and counseling.
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Authors
Brage Storstein Andresen, Allan Meldgaard Lund, David Michael Hougaard, Ernst Christensen, Birthe Gahrn, Mette Christensen, Peter Bross, Anne Vested, Henrik Simonsen, Kristin Skogstrand, Simon Olpin, Niels Jacob Brandt, Flemming Skovby,