Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome

Hum Mutat. 2000 Jun;15(6):584-5. doi: 10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Bloom Syndrome / genetics*
  • Chromosomes, Human, Pair 15 / genetics
  • Cysteine / genetics
  • DNA Helicases / genetics*
  • Humans
  • Morocco
  • Mutation, Missense / genetics*
  • RecQ Helicases
  • Threonine / genetics

Substances

  • Threonine
  • Adenosine Triphosphatases
  • Bloom syndrome protein
  • DNA Helicases
  • RecQ Helicases
  • Cysteine