Publication | Open Access

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Mendelian DisorderGenetic DisorderAshkenazi JewsGeneticsMissense MutationMolecular BiologyMolecular GeneticsDisease Gene IdentificationMedicineAutosomal-recessive Retinitis Pigmentosa