Identification of three novel frameshift mutations (83delAT, 75insCT, and 435+1G to A) of mitochondrial acetoacetyl-Coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
Détails
ID Serval
serval:BIB_1237
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Identification of three novel frameshift mutations (83delAT, 75insCT, and 435+1G to A) of mitochondrial acetoacetyl-Coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
Périodique
Human Mutation
Statut éditorial
Publié
Date de publication
1997
Volume
9
Pages
277-279
OAI-PMH
Création de la notice
19/11/2007 13:03
Dernière modification de la notice
20/08/2019 13:40
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