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The Bloom's Syndrome Registry

Maureen M Sanz, James German

Research & Scholarship: Non-textual formWeb publication/site

Abstract

More than Half a Century of Successful Clinical and Basic Scientific Investigation.  The Bloom’s Syndrome Registry is a cooperative effort in clinical and basic scientific investigation between (i) a certain small group of human geneticists and (ii) the population composed of the majority of persons ever identified who have autosomal recessively transmitted Bloom’s syndrome (BSyn). The population is small because the trait itself, although known to arise in many if not all national and ethnic groups, is itself very rare. The goal of the Registry is to characterize BSyn fully.
Original languageAmerican English
StatePublished - 2009

Disciplines

  • Life Sciences

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