Concepedia

Agnete Kølvraa

AK

1

Publications

116

Citations

1

H-Index

2008

Active since

Affiliations

Hospital for Sick Children(Current)

Agnete Kølvraa is an author at Hospital for Sick Children specializing in inherited metabolic disease, molecular genetics, and gene expression.

Top concepts

GeneticsGenomicsMedicineGene ExpressionNatural SciencesMolecular BiologyMolecular GeneticsInherited Metabolic Disease

Publications per year

2008–2008

1

Publications

1

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level

Christina B. Pedersen, Steen Kølvraa, Agnete Kølvraa et al. · Human Genetics · 2008 · 116 citations

Mendelian Disorder, Missense Variations, Genetic Disorder +12

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