Author:
Madsen Pia Pinholt,Kibæk Maria,Roca Xavier,Sachidanandam Ravi,Krainer Adrian R.,Christensen Ernst,Steiner Robert D.,Gibson K. Michael,Corydon Thomas J.,Knudsen Inga,Wanders Ronald J.A.,Ruiter Jos P.N.,Gregersen Niels,Andresen Brage Storstein
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference67 articles.
1. Akaboshi, Ruiters J, Wanders R, Andresen B, Steiner R, Gibson KM (2001) Divergent phenotypes in siblings with confirmed 2-methylbutyryl-CoA dehydrogenase (2-MBCD) deficiency. J Inherit Metab Dis (abstract) 24 (1):58
2. Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N (1997) The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? Hum Mol Genet 6:695–707
3. Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F (2000) Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl- CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet 67:1095–1103
4. Aretz S, Uhlhaas S, Sun Y, Pagenstecher C, Mangold E, Caspari R, Moslein G, Schulmann K, Propping P, Friedl W (2004) Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene. Hum Mutat 24:370–380
5. Ars E, Kruyer H, Morell M, Pros E, Serra E, Ravella A, Estivill X, Lazaro C (2003) Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. J Med Genet 40:e82
Cited by
34 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献