Matches in DBpedia 2014 for { <http://dbpedia.org/resource/RECQL4> ?p ?o. }
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- RECQL4 abstract "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. This condition is associated with a high risk of developing osteosarcoma (malignant tumor of the bone).RECQL4 gets it name from being homologous (sharing sequence) with other members of the RecQ helicase family. Two other genetic diseases are due to mutations in other RECQ helicases. Bloom syndrome is associated with mutations in the BLM gene and Werner syndrome is associated with mutations in the WRN gene.".
- RECQL4 entrezgene "9401".
- RECQL4 wikiPageExternalLink br.fcgi?book=gene&part=rts.
- RECQL4 wikiPageID "14812521".
- RECQL4 wikiPageRevisionID "592908944".
- RECQL4 hasPhotoCollection RECQL4.
- RECQL4 requireManualInspection "no".
- RECQL4 updateCitations "yes".
- RECQL4 updatePage "yes".
- RECQL4 updateProteinBox "yes".
- RECQL4 updateSummary "yes".
- RECQL4 type Biomolecule.
- RECQL4 type Protein.
- RECQL4 type BiologicalObject.
- RECQL4 comment "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.".
- RECQL4 label "RECQL4".
- RECQL4 sameAs m.03gys37.
- RECQL4 sameAs Q7276295.
- RECQL4 sameAs Q7276295.
- RECQL4 sameAs RECQL4.
- RECQL4 wasDerivedFrom RECQL4?oldid=592908944.
- RECQL4 isPrimaryTopicOf RECQL4.