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.
Lossi
A M
AM
Millán
J M
JM
Villard
L
L
Orellana
C
C
Cardoso
C
C
Prieto
F
F
Fontés
M
M
Martínez
F
F
D000595:Amino Acid Sequence; D001483:Base Sequence; D015982:Bias; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D004303:Dosage Compensation, Genetic; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000737:chemistry / Q000235:genetics*; D010264:Paraplegia / Q000235:genetics*; D010375:Pedigree; D017433:Protein Structure, Secondary; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D000075924:X-linked Nuclear Protein
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein