Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: Investigation of the effect of the mutant allele

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作者： Bross,P. ^[1] ; Frederiksen,J.B. ^[2] ; Bie,A.S. ; Hansen,J. ; Palmfeldt,J. ; Nielsen,M.N. ; Duno,M. ; Lund,A.M. ; Christensen,E.

作者单位： Research Unit for Molecular Medicine, Aarhus University Hospital and Aarhus University, Institute ^[1] Department of Clinical Genetics, Juliane Marie Center, Rigshospitalet, Copenhagen, Denmark ^[2]

发布时间 2013-11-20

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Journal of inherited metabolic disease

2012年35卷5期

787-796页

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Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: Investigation of the effect of the mutant allele

Journal of inherited metabolic disease

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Journal of inherited metabolic disease

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Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: Investigation of the effect of the mutant allele

Journal of inherited metabolic disease

相似文献

Journal of inherited metabolic disease

相关期刊

检索历史清除