A nonsense mutation of PEPD in four Amish children with prolidase deficiency.
Wang H, Kurien BT, Lundgren D, Patel NC, Kaufman KM, Miller DL, Porter AC, D'Souza A, Nye L, Tumbush J, Hupertz V, Kerr DS, Kurono S, Matsumoto H, Scofield RH.
Wang H, et al. Among authors: kurien bt.
Am J Med Genet A. 2006 Mar 15;140(6):580-5. doi: 10.1002/ajmg.a.31134.
Am J Med Genet A. 2006.
PMID: 16470701