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Reply to letter by Volpi regarding: ?RNA processing defects of the helicase geneRECQL4 in a compound heterozygous Rothmund-Thomson patient?

✍ Scribed by Larizza, Lidia ;Beghini, Alessandro

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 26 KB
Volume: 129A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20637

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## Abstract Rothmund–Thomson syndrome (RTS) (OMIM 268400) is an autosomal recessive genodermatosis associated with genomic instability and increased risk of mesenchymal cancers. Mutations in the __RECQL4__ gene, encoding a protein of the family of Werner (__WRN__) and Bloom (__BLM__) helicases, hav

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