Tags: Protein.

ATP-dependent DNA helicase Q4 is an enzyme that in humans is encoded by the RECQL4 gene.Mutations in RECQL4 are associated with the autosomal recessive disease Rothmund-Thomson Syndrome. There are two types of Rothmund Thomson syndrome and it is Type 2 that is caused by patients carrying deleterious mutations in both copies of the RECQL4 gene.

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