Article
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.
Human molecular genetics - 1 Nov 2003
Siitonen H Annika, Kopra Outi, Kääriäinen Helena, Haravuori Henna, Winter Robin M, Säämänen Anna-Marja, Peltonen Leena, Kestilä Marjo
Abstract excerpt
The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN mutated in Werner syndrome and RECQL and RECQL5. All polypeptides encoded by RECQL genes share a central region of seven helicase domains. The function of RECQL4 remains unknown, but based on the domain homology it...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.