1996
  1. Johnson,M.R., Polymeropoulos,M.H., Vos,H.L., Ortiz de Luna,R.I. and Francomano,C.A.
    A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis
    Genome Res6, 1050-1055. PubMed  Europe PubMed  K  M