Molecular defect in siblings with prolidase deficiency and absence or presence of clinical symptoms. A 0.8-kb deletion with breakpoints at the short, direct repeat in the PEPD gene and synthesis of abnormal messenger RNA and inactive polypeptide

A. Tanoue, F. Endo, I. Akaboshi, T. Oono, J. Arata, I. Matsuda

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24 Citations (Scopus)

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Medicine & Life Sciences