Syndrome-causing mutations of the BLM gene in persons in the Bloom's syndrome registry

James German, Maureen M. Sanz, Susan Ciocci, Tian Z. Ye, Nathan A. Ellis

Research & Scholarship: Contribution to journalReview articlepeer-review

Original languageEnglish
Pages (from-to)743-753
Number of pages11
JournalHuman Mutation
Volume28
Issue number8
DOIs
StatePublished - Aug 2007

ASJC Scopus Subject Areas

  • Genetics
  • Genetics(clinical)

Keywords

  • BLM
  • Bloom syndrome
  • Cryptic relatedness
  • Founder effect
  • Founder mutation
  • Foundred

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