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R85H mutation in the human RHBDD2 gene. A, pedigree of an arRP family carrying the R85H mutation in the RHBDD2 gene. Filled circles represent the affected members of the family. B, sequences of DNA fragments containing the site of mutation in the RHBDD2 gene. C, Arg-85 is conserved in the RHBDD2 sequence among different species of mammals. h, human; ch, chimpanzee; c, cow; d, dog; m, mouse; r, rat.
