Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation.

In studies of mutations causing deficiency of ornithine delta-aminotransferase (EC 2.6.1.13), we found an allele whose mature mRNA has a 142-nucleotide insertion at the junction of sequences from exons 3 and 4. The insert derives from an Alu element in ornithine delta-aminotransferase intron 3 orien...

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Detalhes bibliográficos
Main Authors: Mitchell, G A, Labuda, D, Fontaine, G, Saudubray, J M, Bonnefont, J P, Lyonnet, S, Brody, L C, Steel, G, Obie, C, Valle, D
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC50904/
https://ncbi.nlm.nih.gov/pubmed/1992472
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