Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome

  • Jill R. Woloszynek
  • , Robert J. Rothbaum
  • , Amy S. Rawls
  • , Patrick J. Minx
  • , Richard K. Wilson
  • , Philip J. Mason
  • , Monica Bessler
  • , Daniel C. Link

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Biochemistry, Genetics and Molecular Biology