Article

Functional characterisation of a RECQL4 mutation in Rothmund-Thomson syndrome

2020-01-01

Abstract excerpt

Germline mutations affecting the RECQL4 DNA helicase cause Type II Rothmund-Thomson syndrome (RTS), a human disease characterised by defects in skeletal development and predisposition to specific types of cancer, including osteosarcoma (OS). RECQL4 has been implicated in multiple cellular functions that mediate accurate DNA replication and repair. How germline RECQL4 mutations associated with Type II RTS affect th...

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Literature Corpus work: 01269d00-b259-5837-909f-81c6fe70db93
DOI: 10.17863/cam.58636

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