A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

A novel nonsense mutation associated with the skipping of constitutive exon 2 of the 3-hydroxy-3-methylglutaryl-CoA lyase gene was found in two patients, from Portugal and Morocco, with 3-hydroxy-3-methylglutaric acidemia. By reverse transcriptase PCR and single-strand conformational polymorphism a...

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Autori principali: Pié, J, Casals, N, Casale, C H, Buesa, C, Mascaró, C, Barceló, A, Rolland, M O, Zabot, T, Haro, D, Eyskens, F, Divry, P, Hegardt, F G
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1997
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1218323/
https://ncbi.nlm.nih.gov/pubmed/9163320
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