Author:
Andresen Brage Storstein,Dobrowolski Steve F.,O'Reilly Linda,Muenzer Joseph,McCandless Shawn E.,Frazier Dianne M.,Udvari Szabolcs,Bross Peter,Knudsen Inga,Banas Rick,Chace Donald H.,Engel Paul,Naylor Edwin W.,Gregersen Niels
Subject
Genetics(clinical),Genetics
Reference35 articles.
1. 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);Andresen;Am J Hum Genet,1993
2. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: Is there correlation between genotype and phenotype?;Andresen;Hum Mol Genet,1997
3. Molecular genetic validation of the tandem MS method used for newborn screening for MCAD deficiency;Andresen;J Inher Metab Dis Suppl,1999
4. The mutational spectrum in the MCAD gene of newborns identified by prospective tandem MS screening for “diagnostic” acyl-carnitines in blood spots differs from that observed in clinically affected patients;Andresen;J Inherit Metab Dis Suppl,2000
5. A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene;Andresen;Hum Mol Genet,1993
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