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Bloom's syndrome: A deficiency in the detoxification of active oxygen species?

✍ Scribed by Wieser, Karl; Farshad, Mazda; Vlachopoulos, Lazaros; Ruffieux, Kurt; Gerber, Christian; Meyer, Dominik C.

Book ID
121898730
Publisher
Elsevier Science
Year
1981
Weight
112 KB
Volume
17
Category
Article
ISSN
0277-5379

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Syndrome-causing mutations of the BLM ge
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Communicated by Albert de la Chapelle 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