Article
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.
Nature - 12 Dec 1996
Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel J L, Sassone-Corsi P, Hanauer A
Abstract excerpt
The Coffin-Lowry syndrome (CLS), an X-linked disorder, is characterized by severe psychomotor retardation, facial and digital dysmorphisms, and progressive skeletal deformations. Genetic linkage analysis mapped the CLS locus to an interval of 2-3 megabases at Xp22.2. The gene coding for Rsk-2, a...
Topics
- Abnormalities, Multiple
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Chromosome Mapping
- Female
- Frameshift Mutation
- Humans
- Intellectual Disability
- Male
- Molecular Sequence Data
- Mutation
- Phosphorylation
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Protein Serine-Threonine Kinases
- Ribosomal Protein S6
- Ribosomal Protein S6 Kinases