Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

Link:

https://doi.org/10.1023/b:boli.0000005604.90621.e2

Autor/in:

Erscheinungsjahr:

2003

Medientyp:

Text

Beschreibung:

We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.
We report the first patient with the homozygous GCDH mutation M263V, displaying a high residual activity in fibroblasts of 30%, but presenting with a severe clinical phenotype.

Lizenz:

info:eu-repo/semantics/restrictedAccess

Quellsystem:

Forschungsinformationssystem des UKE

Interne Metadaten

Quelldatensatz: oai:pure.atira.dk:publications/031f633c-6a15-4a91-99c3-29df9f700725