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 prot...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Base Sequence
- Brain
- Chromosome Mapping
- Conserved Sequence
- DNA Helicases
- DNA Primers
- DNA Repair
- Fetus
- Gene Expression Regulation
- Gene Library
- Genetic Linkage
- Humans
- Intellectual Disability
- Lod Score
- Molecular Sequence Data
- Multigene Family