Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients.

Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency is a newly identified disease. A 105-bp deletion in the VLCAD cDNA in two patients has been reported, and detailed molecular characterization of this disease has remained to be done. We report here five mutations identified in four pat...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Souri, M., Aoyama, T., Orii, K., Yamaguchi, S., Hashimoto, T.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1996
Gaiak:
Research Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914938/
https://ncbi.nlm.nih.gov/pubmed/8554073
Etiketak: Etiketa erantsi
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