Ultra high throughput sequencing excludes MDH1 as candidate gene for RP28-linked retinitis pigmentosa

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. As a proo...

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Veröffentlicht in:	Molecular vision 2009-12, Vol.15, p.2627-2633
Hauptverfasser:	Rio Frio, Thomas, Panek, Sylwia, Iseli, Christian, Di Gioia, Silvio Alessandro, Kumar, Arun, Gal, Andreas, Rivolta, Carlo
Format:	Artikel
Sprache:	eng
Schlagworte:	Genetic Loci - genetics Genetic Predisposition to Disease High-Throughput Screening Assays - methods Humans Malate Dehydrogenase - genetics Polymorphism, Single Nucleotide - genetics Retinitis Pigmentosa - enzymology Retinitis Pigmentosa - genetics Sequence Analysis, DNA - methods
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