Syndrome‐causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry

@article{German2007SyndromecausingMO,
  title={Syndrome‐causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry},
  author={James L. German and Maureen M. Sanz and Susan Ciocci and Tian Z Ye and Nathan A. Ellis},
  journal={Human Mutation},
  year={2007},
  volume={28}
}
Bloom syndrome (BS) is caused by homozygous or compound heterozygous mutations in the RecQ DNA helicase gene BLM. Since the molecular isolation of BLM, characterization of BS‐causing mutations has been carried out systematically using samples stored in the Bloom's Syndrome Registry. In a survey of 134 persons with BS from the Registry, 64 different mutations were identified in 125 of them, 54 that cause premature protein‐translation termination and 10 missense mutations. In 102 of the 125… 
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