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Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa
PURPOSE: Mutations in IDH3B, an enzyme participating in the Krebs cycle, have recently been found to cause autosomal recessive retinitis pigmentosa (arRP). The MDH1 gene maps within the RP28 arRP linkage interval and encodes cytoplasmic malate dehydrogenase, an enzyme functionally related to IDH3B....
Autores principales: | Frio, Thomas Rio, Panek, Sylwia, Iseli, Christian, Di Gioia, Silvio Alessandro, Kumar, Arun, Gal, Andreas, Rivolta, Carlo |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2009
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790479/ https://www.ncbi.nlm.nih.gov/pubmed/20011630 |
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