VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-011-9391-8
Reference26 articles.
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2. Andresen BS, Olpin S, Poorthuis BJHM et al. (1999) Clear correlation of genotype with disease phenotype in very-long-chain Acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64:479–494
3. Dipple KM, McCabe ERB (2000a) Modifier genes convert "simple" mendelian disorders to complex traits. Mol Genet Metab 71:43–50
4. Dipple KM, McCabe ERB (2000b) Phenotypes of patients with "simple" mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics. Am J Hum Genet 66:1729–1735
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