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....

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Detalles Bibliográficos
Autores principales: Frio, Thomas Rio, Panek, Sylwia, Iseli, Christian, Di Gioia, Silvio Alessandro, Kumar, Arun, Gal, Andreas, Rivolta, Carlo
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790479/
https://www.ncbi.nlm.nih.gov/pubmed/20011630

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790479/
https://www.ncbi.nlm.nih.gov/pubmed/20011630

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