Journal
JOURNAL OF HUMAN GENETICS
Volume 45, Issue 2, Pages 102-104Publisher
SPRINGER-VERLAG TOKYO
DOI: 10.1007/s100380050023
Keywords
PEPD; prolidase deficiency; mutation; polymorphism; nonsense mutation
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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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