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A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival

Authors

  • S. Moosa
  • V. Fano
  • M.G. Obregon
  • J. Altmüller
  • H. Thiele
  • P. Nürnberg
  • G. Nishimura
  • B. Wollnik

Journal

  • American Journal of Medical Genetics Part A

Citation

  • Am J Med Genet A 170 (9): 2436-2439

DOI

doi:10.1002/ajmg.a.37823