Abstract
A nonsense mutation at amino acid residue 184 in the human peptidase D (PEPD) gene caused the production of a truncated polypeptide. Characterizing molecular defects in patients provides clues to elucidate the relationship between the phenotype and the genotype.
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Received: November 8, 1999 / Accepted: November 24, 1999
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Kikuchi, S., Tanoue, A., Endo, F. et al. A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency. J Hum Genet 45, 102–104 (2000). https://doi.org/10.1007/s100380050023
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DOI: https://doi.org/10.1007/s100380050023
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