Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias

MeSH terms

• Amino Acid Sequence
• Base Sequence
• Bias
• DNA Helicases*
• DNA Mutational Analysis
• DNA-Binding Proteins / chemistry
• DNA-Binding Proteins / genetics*
• Dosage Compensation, Genetic*
• Female
• Humans
• Intellectual Disability / genetics*
• Male
• Molecular Sequence Data
• Mutation*
• Nuclear Proteins / chemistry
• Nuclear Proteins / genetics*
• Paraplegia / genetics*
• Pedigree
• Protein Structure, Secondary
• Transcription Factors / chemistry
• Transcription Factors / genetics*
• X-linked Nuclear Protein