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

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	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:	National Academy of Sciences 1991
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC50904/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1992472/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.88.3.815
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