Article
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
Cell - 24 Mar 1995
Gibbons R J, Picketts D J, Villard L, Higgs D R
Abstract excerpt
The ATR-X syndrome is an X-linked disorder comprising severe psychomotor retardation, characteristic facial features, genital abnormalities, and alpha-thalassemia. We have shown that ATR-X results from diverse mutations of XH2, a member of a subgroup of the helicase superfamily that includes proteins involved in a wide range of cellular functions, including DNA recombination and repair (RAD16, RAD54, and ERCC6)...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.