Article
PAK3 mutation in nonsyndromic X-linked mental retardation.
Nature genetics - 1 Sept 1998
Allen K M, Gleeson J G, Bagrodia S, Partington M W, MacMillan J C, Cerione R A, Mulley J C, Walsh C A
Abstract excerpt
Nonsyndromic X-linked mental retardation (MRX) syndromes are clinically homogeneous but genetically heterogeneous disorders, whose genetic bases are largely unknown. Affected individuals in a multiplex pedigree with MRX (MRX30), previously mapped to Xq22, show a point mutation in the PAK3 (p21-ac...
Topics
- Animals
- Base Sequence
- Brain
- COS Cells
- Cloning, Molecular
- Female
- Fluorescent Antibody Technique, Indirect
- Humans
- Intellectual Disability
- Male
- Mice
- Molecular Sequence Data
- Mutation
- Pedigree
- Protein Serine-Threonine Kinases
- Rats
- Recombinant Proteins
- Sequence Analysis, DNA
