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Inverted tandem duplication of 8p12----p23.1 in a child with increased activity of glutathione reductase.

At least 16 cases of inversion tandem duplications of the short arm of chromosome 8 have been reported. Structural rearrangements of chromosome 8 have made it possible to localise the gene for glutathione reductase (GSR) to 8p21.1. We report here on a 16 month old boy with mental retardation with pa...

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Autors principals: Nevin, N C, Morrison, P J, Jones, J, Reid, M M
Format: Artigo
Idioma:Inglês
Publicat: 1990
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016937/
https://ncbi.nlm.nih.gov/pubmed/2319583
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